A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675936



Internal ID9942041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:27759411..27762823hg38UCSC Ensembl
chr19:28250319..28253731hg19UCSC Ensembl
Cytoband19q11
Allele length
AssemblyAllele length
hg383413
hg193413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5427574, essv5498091, essv5705639, essv6158551, essv6430451, essv5510641, essv6378225, essv5459237, essv5570293, essv6396451, essv5666091, essv6293645, essv5600669, essv6047565, essv6113683, essv6385011, essv5698962, essv5515777, essv5804097, essv6582765, essv5421993, essv5961821, essv6523564, essv5564797, essv6556318, essv6212949, essv5901617, essv6029133, essv6298477, essv5656038, essv5579798, essv6477311, essv6203354, essv5935305, essv6190659, essv6210396, essv6370151
SamplesNA19466, NA19704, NA19350, NA18504, NA19443, NA19920, NA19446, NA19315, NA19457, NA19313, HG01069, NA19235, NA19901, NA18867, NA19437, HG01095, NA19236, NA18871, NA20344, NA19461, NA18499, NA19469, NA19712, NA19473, NA19435, NA19444, NA19331, NA19334, NA19470, NA19376, NA19248, NA19474, NA19102, NA18873, NA18505, NA19316, NA19463
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675936
Frequency
Sample Size1151
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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