A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588566



Internal ID6975983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200930190..200938077hg38UCSC Ensembl
Innerchr1:200930220..200938047hg38UCSC Ensembl
Outerchr1:200930160..200938107hg38UCSC Ensembl
chr1:200899318..200907205hg19UCSC Ensembl
Innerchr1:200899348..200907175hg19UCSC Ensembl
Outerchr1:200899288..200907235hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg387888
hg197888
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10264970
SamplesNA19792
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588566
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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