A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662649



Internal ID9928754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:50827242..50830636hg38UCSC Ensembl
chr19:51330498..51333892hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5709697, essv5530098, essv5896213, essv5484386, essv6412183, essv5507897, essv6126307, essv5917033, essv5752681, essv5408902, essv5534336, essv6219364, essv5911644, essv5696897, essv5645898, essv6588004, essv5866526, essv6322404, essv5958531, essv5608886, essv6308875, essv5959481, essv5662049, essv5642492, essv6348177, essv6313631, essv5846173, essv6042400, essv5591220, essv6175572, essv6336335, essv6517679, essv6263894, essv6442733, essv5442459
SamplesNA12842, HG01374, NA19684, NA12400, HG01051, NA19374, NA19373, NA19678, HG01083, HG00335, NA20819, NA20775, NA20515, NA19657, NA12342, NA19327, NA20314, HG00263, NA20519, NA19655, HG00117, HG01101, NA19652, NA20778, NA19786, NA20803, NA19785, NA20510, NA20807, NA20826, NA19312, NA12890, NA20585, HG01097, HG00553
Known GenesKLK15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662649
Frequency
Sample Size1151
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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