A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587113



Internal ID6627420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107680187..107682621hg38UCSC Ensembl
Innerchr1:107680187..107682621hg38UCSC Ensembl
Outerchr1:107679982..107682842hg38UCSC Ensembl
chr1:108222809..108225243hg19UCSC Ensembl
Innerchr1:108222809..108225243hg19UCSC Ensembl
Outerchr1:108222604..108225464hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382435
hg192435
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10051518, essv10051519
SamplesHG01378, HG01462
Known GenesVAV3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587113
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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