A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587322



Internal ID6974749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117784727..117792463hg38UCSC Ensembl
Innerchr1:117784727..117792463hg38UCSC Ensembl
Outerchr1:117784521..117792740hg38UCSC Ensembl
chr1:118327349..118335085hg19UCSC Ensembl
Innerchr1:118327349..118335085hg19UCSC Ensembl
Outerchr1:118327143..118335362hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg387737
hg197737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10081939
SamplesHG01990
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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