A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663436



Internal ID9929541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10785167..10785487hg38UCSC Ensembl
chr12:10937766..10938086hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5889973, essv5647120, essv6143249, essv5966971, essv5432188, essv5676139, essv5908883, essv6523506, essv6446888, essv6313561, essv6245881, essv6206423, essv5904125, essv6578122, essv6135918, essv5417742, essv6004875, essv6505768, essv6315404, essv5763097, essv6448343, essv5869548, essv5949388, essv6569107, essv6184169, essv6180055, essv6271980, essv5897307, essv5412162, essv6378755, essv6073448, essv5678560, essv6492350, essv5877400, essv5907242, essv6489938, essv5783987
SamplesHG00626, NA19394, NA19377, NA18602, HG00327, HG00271, NA19373, HG01350, HG00634, HG00736, HG00610, HG00537, HG00281, NA19087, NA19445, NA20127, NA19985, NA18973, HG00464, NA19707, NA19403, NA19455, NA18910, HG01390, HG00373, HG00321, NA19436, NA18576, NA18953, NA19440, NA19712, NA19428, HG00319, HG01108, NA19398, NA19438, NA18636
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663436
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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