A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13176362



Internal ID3178178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39747072..39754659hg38UCSC Ensembl
Innerchr8:39747089..39754643hg38UCSC Ensembl
Outerchr8:39747056..39754676hg38UCSC Ensembl
chr8:39604591..39612178hg19UCSC Ensembl
Innerchr8:39604608..39612162hg19UCSC Ensembl
Outerchr8:39604575..39612195hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg387588
hg197588
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616957
Supporting Variants
SamplesNA21097
Known GenesADAM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13176362
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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