A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678294



Internal ID9944399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14792452..14792574hg38UCSC Ensembl
chr12:14945386..14945508hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392242, essv6097877, essv5943783, essv5967482, essv6380172, essv5987953, essv5449718, essv6448912, essv5635506, essv6350335, essv5875582, essv6398000, essv5449181, essv5826071, essv6066303, essv6471471, essv5686606, essv6500849, essv6593575, essv5476992, essv5767339, essv5631352, essv5729305, essv5551082, essv5883257, essv6541424, essv5897390, essv5515447, essv6423622, essv5872972, essv6068829, essv6082999, essv6090197, essv6202776, essv6522427, essv6292623, essv6556355, essv6181034, essv5644769, essv5796938, essv6596290, essv5597326, essv6198359, essv5889058, essv5668625, essv5697849, essv5721643, essv5709450, essv5649238, essv5658803, essv5649151, essv5626601, essv5802425, essv5595693, essv5496158, essv5521530, essv6083834, essv6122427, essv5940454, essv5809713, essv6399562, essv6134790, essv5929803, essv6458941, essv6357018, essv5426799, essv6554604, essv5885763, essv5744218, essv6179619, essv5874875, essv5464790, essv5948985
SamplesNA20588, HG01441, NA19648, NA19909, NA12414, HG00367, HG01051, HG00337, HG01366, HG01070, HG00272, HG00251, NA19448, NA19678, NA20774, HG00330, HG01083, HG00281, HG00139, NA12275, HG01067, NA20518, HG01072, NA20340, NA19371, HG00182, NA20811, HG01133, NA11993, HG00108, HG00260, HG00313, HG00154, HG00268, HG01171, NA19670, NA12342, HG00368, HG00263, HG00740, NA19654, NA18566, HG00324, NA18499, HG00276, HG00246, HG00254, NA12775, HG00353, HG00375, HG00136, NA20804, NA20785, NA19010, NA12046, NA20530, NA20504, HG01137, HG00319, NA07037, HG00256, HG00125, HG00111, NA12749, HG00123, NA19102, NA20807, NA11892, HG01125, HG00345, NA12006, HG00553, HG00437
Known GenesWBP11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678294
Frequency
Sample Size1151
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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