A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204438



Internal ID3206254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56248755..56255953hg38UCSC Ensembl
Innerchr8:56248755..56255953hg38UCSC Ensembl
Outerchr8:56248255..56256453hg38UCSC Ensembl
chr8:57161314..57168512hg19UCSC Ensembl
Innerchr8:57161314..57168512hg19UCSC Ensembl
Outerchr8:57160814..57169012hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg387199
hg197199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617295
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204438
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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