A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676743

Internal ID9596162
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1085081..1090887hg38UCSC Ensembl
chr12:1194247..1200053hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5810702, essv6013685, essv6299090, essv5855057, essv5792671, essv6248471, essv5665478, essv6375776, essv5537560, essv6563820, essv6091789, essv5615390, essv6232490, essv6138813, essv5448767, essv5938778, essv5440550, essv5728495, essv5421550, essv6176466, essv6552865, essv5677160, essv5436346, essv5489286, essv6230698, essv5663101, essv5936777, essv6234854, essv5401169, essv5444237, essv5969278, essv6147139, essv5596969, essv6569622, essv5481121, essv5724952, essv6009345, essv6544400, essv5550868, essv5773451, essv6372623, essv6107606, essv5761406, essv6592589, essv5866820, essv6570906, essv5504480, essv5873637, essv5886630, essv5848630, essv5544647, essv5912286, essv5716233, essv6423182, essv5501356, essv5938983, essv6266863, essv5440525, essv6445739, essv6567756, essv6104580, essv5472342, essv6291042, essv5545440, essv6591094, essv6457378, essv6547499, essv5879217, essv5637959, essv6046068, essv6363709, essv6046863, essv5519278, essv6594674, essv6021681, essv6418670, essv6020939, essv5855719, essv5626372, essv5518517, essv5408898, essv6548090, essv6266673, essv5474669, essv6377483, essv6593917, essv6457097, essv6106949, essv6521668, essv5445859, essv6168281, essv6108368, essv5831886, essv6331363, essv5582089, essv6506515, essv6460464, essv5843976, essv5526296, essv5733501, essv5636404, essv6373801, essv6116417, essv6517894, essv5753160, essv6224697, essv6158894, essv5673021, essv5647649, essv6205865, essv5891624, essv6105352, essv6322104, essv5630259, essv5763492, essv6077544
SamplesHG00323, HG01357, HG00734, HG01359, HG00607, HG00257, HG00100, HG01075, NA12342, HG00328, HG01173, HG00369, NA12347, HG00131, HG00736, HG00310, HG00707, NA12340, HG01197, HG00657, HG01051, HG01082, NA20816, HG01174, HG00173, NA20778, HG00553, HG01350, HG00139, HG00122, HG00106, HG00111, NA18963, HG00651, HG00335, HG00331, NA18557, HG01171, NA20586, HG00247, HG00269, HG00256, HG00342, HG00244, HG00543, HG01107, HG00339, NA20533, HG01384, HG01140, HG00421, HG00583, HG00337, HG00140, HG00259, HG01048, HG00372, HG01183, HG01124, HG00141, NA12273, HG00338, HG00178, HG00258, HG01136, NA19835, NA19681, HG00254, HG00276, HG00403, NA18634, HG00237, HG00343, HG00584, HG00114, HG00267, HG00108, HG01465, HG01191, NA20512, HG00176, NA19713, NA19664, HG00672, HG00282, HG01069, HG00249, HG00740, HG00329, NA20766, HG00377, HG00427, NA19921, HG00595, HG01190, NA12272, HG01334, NA06984, NA19394, NA18565, HG00262, HG00608, HG00654, HG00281, NA12399, NA19717, HG00142, HG00422, HG00275, HG00137, HG00684, NA20772, HG00272, HG00278, HG00136, HG00327
Known GenesERC1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2676743
Sample Size1151
Observed Gain0
Observed Loss116
Observed Complex0

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