A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588658



Internal ID6628949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206745666..206747304hg38UCSC Ensembl
Innerchr1:206745690..206747280hg38UCSC Ensembl
Outerchr1:206745642..206747328hg38UCSC Ensembl
chr1:206919011..206920649hg19UCSC Ensembl
Innerchr1:206919035..206920625hg19UCSC Ensembl
Outerchr1:206918987..206920673hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381639
hg191639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10274415
SamplesNA19096
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588658
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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