A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616525



Internal ID6656721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18630127..18630930hg38UCSC Ensembl
Innerchr8:18630177..18630880hg38UCSC Ensembl
Outerchr8:18629937..18631120hg38UCSC Ensembl
chr8:18487637..18488440hg19UCSC Ensembl
Innerchr8:18487687..18488390hg19UCSC Ensembl
Outerchr8:18487447..18488630hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13130103, essv13130107, essv13130104, essv13130106, essv13130105, essv13130102
SamplesNA20321, HG02973, NA20320, HG03063, HG02545, HG03515
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616525
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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