A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11241939



Internal ID1243755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178832336..178833109hg38UCSC Ensembl
Innerchr3:178832394..178833054hg38UCSC Ensembl
Outerchr3:178832029..178833416hg38UCSC Ensembl
chr3:178550124..178550897hg19UCSC Ensembl
Innerchr3:178550182..178550842hg19UCSC Ensembl
Outerchr3:178549817..178551204hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38774
hg19774
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598826
Supporting Variants
SamplesHG00473
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11241939
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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