A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13102326



Internal ID3104142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11326498..11340418hg38UCSC Ensembl
Innerchr8:11326498..11340418hg38UCSC Ensembl
Outerchr8:11325998..11340918hg38UCSC Ensembl
chr8:11184007..11197927hg19UCSC Ensembl
Innerchr8:11184007..11197927hg19UCSC Ensembl
Outerchr8:11183507..11198427hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3813921
hg1913921
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616243
Supporting Variants
SamplesNA19247
Known GenesMTMR9, SLC35G5, TDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13102326
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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