A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597601



Internal ID6984740
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11122712
SamplesHG02315
Known GenesILDR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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