A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13130102



Internal ID3131918
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616525
Supporting Variants
SamplesHG02545
Known GenesPSD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13130102
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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