A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10967980



Internal ID969796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:29302595..29319873hg38UCSC Ensembl
Innerchr3:29302595..29319873hg38UCSC Ensembl
Outerchr3:29302376..29320047hg38UCSC Ensembl
chr3:29344086..29361364hg19UCSC Ensembl
Innerchr3:29344086..29361364hg19UCSC Ensembl
Outerchr3:29343867..29361538hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3817279
hg1917279
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595709
Supporting Variants
SamplesHG01133
Known GenesRBMS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10967980
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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