A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11054440



Internal ID1056256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81627318..81643598hg38UCSC Ensembl
Innerchr3:81627329..81643588hg38UCSC Ensembl
Outerchr3:81627308..81643609hg38UCSC Ensembl
chr3:81676469..81692749hg19UCSC Ensembl
Innerchr3:81676480..81692739hg19UCSC Ensembl
Outerchr3:81676459..81692760hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg3816281
hg1916281
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596750
Supporting Variants
SamplesHG00595
Known GenesGBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11054440
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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