A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13339034



Internal ID4118026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135257114..135268915hg38UCSC Ensembl
Innerchr8:135257114..135268915hg38UCSC Ensembl
Outerchr8:135256981..135269086hg38UCSC Ensembl
chr8:136269357..136281158hg19UCSC Ensembl
Innerchr8:136269357..136281158hg19UCSC Ensembl
Outerchr8:136269224..136281329hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3811802
hg1911802
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618920
Supporting Variants
SamplesHG03738
Known GenesLOC286094
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13339034
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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