A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10982006



Internal ID1672882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37032124..37032563hg38UCSC Ensembl
Innerchr3:37032174..37032513hg38UCSC Ensembl
Outerchr3:37032070..37032617hg38UCSC Ensembl
chr3:37073615..37074054hg19UCSC Ensembl
Innerchr3:37073665..37074004hg19UCSC Ensembl
Outerchr3:37073561..37074108hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595878
Supporting Variants
SamplesHG01531
Known GenesMLH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10982006
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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