A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11108263



Internal ID4049084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114739451..114741363hg38UCSC Ensembl
Innerchr3:114739451..114741363hg38UCSC Ensembl
Outerchr3:114739334..114741548hg38UCSC Ensembl
chr3:114458298..114460210hg19UCSC Ensembl
Innerchr3:114458298..114460210hg19UCSC Ensembl
Outerchr3:114458181..114460395hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg381913
hg191913
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597461
Supporting Variants
SamplesHG03692
Known GenesZBTB20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11108263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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