A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13167935



Internal ID3380450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:35610507..35616808hg38UCSC Ensembl
Innerchr8:35610514..35616802hg38UCSC Ensembl
Outerchr8:35610501..35616815hg38UCSC Ensembl
chr8:35468025..35474326hg19UCSC Ensembl
Innerchr8:35468032..35474320hg19UCSC Ensembl
Outerchr8:35468019..35474333hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg386302
hg196302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616888
Supporting Variants
SamplesHG03027
Known GenesUNC5D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13167935
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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