A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2674294

Internal ID9593713
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2407397..2407706hg38UCSC Ensembl
chr12:2516563..2516872hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6542515, essv5759023, essv5405484, essv6278724, essv5665654, essv6517603, essv5837940, essv6511270, essv5464491, essv5477966, essv5672480, essv5825757, essv6123996, essv5410040, essv5696979, essv6567912, essv6252507, essv6413433, essv6184266, essv6443267, essv5469040, essv5559235, essv6092392, essv6172887, essv6345801, essv5675509, essv5460723, essv6311139, essv6307433, essv6150246, essv6109066, essv6044449, essv5626485, essv5619533, essv5495623, essv5781819, essv6528768, essv6180666, essv5888698, essv6382361, essv6353850, essv5723766, essv6197870, essv6455379, essv5772756, essv6012293, essv5666263, essv5541008, essv6169185, essv5612928, essv6208150, essv6353288, essv6326219, essv5479045, essv6037594, essv5542419, essv5565605, essv5892692, essv6237505, essv6147491, essv5399276, essv5557550, essv5840218, essv5505302, essv6317709, essv6404527, essv6427787, essv6247318, essv6067715, essv6534581, essv5888515, essv5634340, essv6496518, essv6515364, essv5817771, essv6510195, essv6410944, essv5905546, essv5814030, essv6247054, essv6310925, essv5429605, essv6543129, essv5442535, essv6176162, essv6481036, essv6421558, essv6221964, essv5863692
SamplesHG00344, HG01072, NA20785, HG01075, NA18561, NA18933, HG00310, NA19003, HG00707, HG01079, HG01389, HG00463, NA19359, HG00475, HG00542, NA19461, HG00111, HG00404, HG00335, HG00253, NA20322, NA18557, NA18596, NA20586, HG00256, HG00342, HG00244, HG00154, HG00339, NA12763, HG01140, NA19054, HG00421, HG01378, NA19444, HG00610, HG00689, HG00419, NA11843, HG00254, NA19457, HG00343, HG00133, HG00373, NA19377, HG01437, HG00653, NA20348, HG00325, HG00185, HG01073, NA19664, HG01069, HG01356, NA20814, NA18564, HG00277, HG01080, NA18613, HG00513, NA20813, HG00427, HG00590, NA18599, HG01334, NA19394, HG00663, NA20287, NA18544, NA19434, HG00281, HG00285, NA19717, HG00625, HG00690, NA18549, HG01462, NA19079, NA19473, HG00684, HG00336, HG00272, HG00704, HG00271, HG00136, HG00531, HG01354, NA19439, HG00312
Known GenesCACNA1C
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2674294
Sample Size1151
Observed Gain0
Observed Loss89
Observed Complex0

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