A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587293



Internal ID6627600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115778626..115834755hg38UCSC Ensembl
Innerchr1:115778776..115834605hg38UCSC Ensembl
Outerchr1:115778476..115834905hg38UCSC Ensembl
chr1:116321247..116377376hg19UCSC Ensembl
Innerchr1:116321397..116377226hg19UCSC Ensembl
Outerchr1:116321097..116377526hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3856130
hg1956130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10080959
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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