A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2668000

Internal ID9587419
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1121704..1122522hg38UCSC Ensembl
chr12:1230870..1231688hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5728100, essv5923262, essv5634269, essv6411327, essv5506205, essv6065610, essv6101270, essv6166702, essv6456778, essv5473720, essv5466166, essv6225041, essv5848860, essv5740729, essv6263942, essv6438540, essv5512605, essv5481285, essv5900572, essv5611125, essv5684057, essv5947322, essv5410994, essv6295375, essv6571403, essv6502149, essv6381072, essv5796939, essv6240922, essv5652189, essv6292236, essv5718443, essv5929380, essv6498837, essv6524083, essv6466874, essv5523435, essv6037445, essv6285765, essv6412947, essv5630460, essv5615497, essv6382763, essv5691867, essv5872673, essv5722400, essv6336924, essv6489677, essv5644341, essv6404568, essv6507058, essv5582742, essv6185376, essv6430462, essv5555162, essv6126708, essv6035877, essv6027070, essv6576342, essv5801747, essv5680952, essv5909685, essv5412844, essv6151323, essv6311818, essv5638992, essv6038269, essv6484307, essv6002064, essv5501532, essv5851715, essv6516962, essv6037939, essv5708206, essv5883042, essv5880633, essv6242723, essv6273977, essv5399712, essv5784827, essv5738326, essv5745243, essv6053534, essv5767706, essv5971510, essv6514965, essv6026401, essv6382588, essv5916001, essv6300352, essv6129649, essv6070642, essv6452357, essv6554387, essv5411478, essv6288220, essv5768358, essv5712869, essv5401315, essv6475378, essv6414039, essv5944160, essv5976281, essv6316431, essv5584953, essv5417970, essv5440719, essv6005918, essv6573419, essv5836558, essv5876235, essv5478161, essv5973447, essv5482517, essv5749173, essv6268697, essv5623350, essv5606284, essv5419935, essv6063270, essv5538682, essv5461930, essv6212263, essv5522031, essv5888187, essv6430469, essv5996867, essv5493414, essv5671107, essv5981120, essv6231823, essv6107001, essv6278242, essv5662769, essv5795225, essv5519977, essv6182733, essv5716998, essv5927790, essv5538845, essv5542520, essv6138667, essv6172739, essv6069819, essv6219694
SamplesHG00323, NA20281, NA12827, HG01359, NA12249, NA18861, NA19436, HG00252, HG00318, HG00536, NA07347, NA12750, NA11930, NA07037, NA20785, NA20516, HG00731, HG00245, NA19093, HG00736, NA19469, HG00261, HG01389, NA18516, NA19359, HG01051, HG01492, NA20800, HG01082, NA20816, NA20529, HG00475, HG00542, NA19338, NA19449, HG00326, HG00148, NA20786, HG00270, HG01350, NA18489, NA19834, NA20588, NA19685, HG01461, HG00335, HG00557, HG01101, NA11893, NA19236, NA19474, NA18557, NA18868, NA20586, HG00256, HG00244, HG00543, HG01107, HG01148, NA20585, NA20533, HG00346, HG01140, NA18508, NA12282, HG00337, NA19917, NA19660, HG00259, HG01048, NA20530, HG01047, NA07048, NA12761, NA18638, NA19429, NA19908, HG00338, NA20541, NA20520, NA11995, NA18593, HG00243, HG00254, NA19679, HG00237, HG00343, HG00662, NA18539, NA12751, NA19360, NA18620, NA19189, NA19372, NA19703, HG00268, NA20760, HG00263, NA18522, NA20753, NA18510, NA18502, HG00273, NA18504, NA19704, HG00478, NA11892, HG00277, HG01080, NA19720, NA18562, HG00377, NA19318, HG00236, NA19235, NA20525, NA18597, NA19921, NA18907, NA19078, HG01334, NA20799, NA06984, NA18867, HG00138, NA18989, NA20507, NA18548, NA11993, NA12399, NA20812, HG00142, NA18499, NA18549, NA18574, NA18853, HG00137, NA19448, NA20502, NA20772, NA19661, HG00136, NA18519, HG00312, HG00327
Known GenesERC1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2668000
Sample Size1151
Observed Gain0
Observed Loss145
Observed Complex0

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