A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674294



Internal ID9593713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2407397..2407706hg38UCSC Ensembl
chr12:2516563..2516872hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6542515, essv5759023, essv6278724, essv5405484, essv5665654, essv6517603, essv5837940, essv6511270, essv5464491, essv5477966, essv5672480, essv5825757, essv6123996, essv5410040, essv5696979, essv6567912, essv6252507, essv6443267, essv6184266, essv6413433, essv5469040, essv5559235, essv6092392, essv6172887, essv6345801, essv5675509, essv5460723, essv6311139, essv6307433, essv6150246, essv6109066, essv6044449, essv5626485, essv5619533, essv5781819, essv5495623, essv6528768, essv6180666, essv5888698, essv6382361, essv6353850, essv5723766, essv6197870, essv5772756, essv6455379, essv5666263, essv6012293, essv5541008, essv6169185, essv5612928, essv6208150, essv6353288, essv6326219, essv5479045, essv6037594, essv5542419, essv5565605, essv5892692, essv6237505, essv6147491, essv5399276, essv5557550, essv5840218, essv5505302, essv6427787, essv6404527, essv6317709, essv6247318, essv6067715, essv6534581, essv5888515, essv5634340, essv6515364, essv6496518, 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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674294
Frequency
Sample Size1151
Observed Gain0
Observed Loss89
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer