A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13174626



Internal ID3981800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39449368..39454512hg38UCSC Ensembl
Innerchr8:39449384..39454496hg38UCSC Ensembl
Outerchr8:39449352..39454528hg38UCSC Ensembl
chr8:39306887..39312031hg19UCSC Ensembl
Innerchr8:39306903..39312015hg19UCSC Ensembl
Outerchr8:39306871..39312047hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg385145
hg195145
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616950
Supporting Variants
SamplesHG03636
Known GenesADAM3A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13174626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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