A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672053



Internal ID9591472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27495209..27502230hg38UCSC Ensembl
chr12:27648142..27655163hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387022
hg197022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6398699, essv6408577, essv5561531, essv6057264, essv6551495, essv5992853, essv6393845, essv6106450, essv5575316, essv6000110, essv6462798, essv5726902, essv5654934, essv6039833, essv5983019, essv6489516, essv5524285, essv6162468, essv6042783, essv6590070, essv5962058, essv5527356, essv6434936, essv6420743, essv6148353, essv6388283, essv6337846, essv5937987, essv6330330, essv6453754, essv6078601, essv5442754, essv5611118, essv5524103, essv6384090, essv6595044, essv6179146, essv6214100, essv6366235, essv6588107, essv5752154, essv6328416, essv6396855, essv5561978, essv6131287, essv5546588, essv6574326, essv6349123, essv6166924, essv5769753, essv5817308, essv5955318, essv5507212
SamplesNA12154, NA19712, NA20514, NA20522, NA20526, NA19819, HG00551, NA18933, NA18874, HG00131, NA18516, NA18517, NA19920, NA20778, NA19651, NA19257, NA19108, NA19701, NA20340, NA20761, NA19239, NA20819, NA12004, NA19917, HG01047, NA19256, NA18916, NA12777, NA19676, NA19360, NA19313, NA19703, NA19375, NA18986, HG01069, NA20766, NA19789, NA12889, HG00262, NA20287, NA19446, HG01390, NA20513, NA12003, NA20810, NA19225, NA19160, NA20792, NA11829, NA19240, HG01374, NA19092, NA19468
Known GenesSMCO2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672053
Frequency
Sample Size1151
Observed Gain0
Observed Loss53
Observed Complex0
Frequencyn/a


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