A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054441



Internal ID1056257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81655910..81657413hg38UCSC Ensembl
Innerchr3:81655972..81657351hg38UCSC Ensembl
Outerchr3:81655848..81657475hg38UCSC Ensembl
chr3:81705061..81706564hg19UCSC Ensembl
Innerchr3:81705123..81706502hg19UCSC Ensembl
Outerchr3:81704999..81706626hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg381504
hg191504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596751
Supporting Variants
SamplesNA18561
Known GenesGBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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