A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122712



Internal ID2614768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122011311..122012751hg38UCSC Ensembl
Innerchr3:122011311..122012751hg38UCSC Ensembl
Outerchr3:122011285..122012775hg38UCSC Ensembl
chr3:121730158..121731598hg19UCSC Ensembl
Innerchr3:121730158..121731598hg19UCSC Ensembl
Outerchr3:121730132..121731622hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg381441
hg191441
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597601
Supporting Variants
SamplesHG02315
Known GenesILDR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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