A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587310



Internal ID6974737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117234766..117237093hg38UCSC Ensembl
Innerchr1:117234832..117237027hg38UCSC Ensembl
Outerchr1:117234700..117237159hg38UCSC Ensembl
chr1:117777388..117779715hg19UCSC Ensembl
Innerchr1:117777454..117779649hg19UCSC Ensembl
Outerchr1:117777322..117779781hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg382328
hg192328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10081545
SamplesNA18948
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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