A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13288536



Internal ID5497511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112589660..112600293hg38UCSC Ensembl
Innerchr8:112589660..112600293hg38UCSC Ensembl
Outerchr8:112589160..112600793hg38UCSC Ensembl
chr8:113601889..113612522hg19UCSC Ensembl
Innerchr8:113601889..113612522hg19UCSC Ensembl
Outerchr8:113601389..113613022hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3810634
hg1910634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618455
Supporting Variants
SamplesNA18984
Known GenesCSMD3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13288536
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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