A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11014136



Internal ID1015952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53098397..53099785hg38UCSC Ensembl
Innerchr3:53098415..53099768hg38UCSC Ensembl
Outerchr3:53098380..53099803hg38UCSC Ensembl
chr3:53132413..53133801hg19UCSC Ensembl
Innerchr3:53132431..53133784hg19UCSC Ensembl
Outerchr3:53132396..53133819hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596167
Supporting Variants
SamplesHG03687
Known GenesRFT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11014136
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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