A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663537



Internal ID9929642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:19270248..19284891hg38UCSC Ensembl
Outerchr1:19270091..19285044hg38UCSC Ensembl
Innerchr1:19596742..19611385hg19UCSC Ensembl
Outerchr1:19596585..19611538hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3814954
hg1914954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25e199
Supporting Variantsessv5996984, essv5410373, essv6099361, essv5994264, essv6301680, essv5742986, essv5661263, essv5961724, essv5823879, essv6048754, essv6321716, essv6307273, essv5531627, essv5528784, essv6350569, essv5605317, essv6511335, essv5816223
SamplesHG01441, NA10851, NA19704, HG00693, NA19374, NA11930, NA20340, HG00422, NA19445, HG00320, NA20344, NA19461, NA19452, NA18523, HG01107, NA19072, NA19213, NA19755
Known GenesAKR7A3, AKR7L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663537
Frequency
Sample Size1151
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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