A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204540



Internal ID6306954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56577720..56579486hg38UCSC Ensembl
Innerchr8:56577727..56579479hg38UCSC Ensembl
Outerchr8:56577713..56579493hg38UCSC Ensembl
chr8:57490279..57492045hg19UCSC Ensembl
Innerchr8:57490286..57492038hg19UCSC Ensembl
Outerchr8:57490272..57492052hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381767
hg191767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617302
Supporting Variants
SamplesNA19909
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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