A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11135121



Internal ID5045236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127537436..127552185hg38UCSC Ensembl
Innerchr3:127537436..127552185hg38UCSC Ensembl
Outerchr3:127536936..127552685hg38UCSC Ensembl
chr3:127256279..127271028hg19UCSC Ensembl
Innerchr3:127256279..127271028hg19UCSC Ensembl
Outerchr3:127255779..127271528hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3814750
hg1914750
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597695
Supporting Variants
SamplesNA18528
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11135121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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