A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588775



Internal ID6976191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213493796..213494995hg38UCSC Ensembl
Innerchr1:213493796..213494995hg38UCSC Ensembl
Outerchr1:213493536..213495270hg38UCSC Ensembl
chr1:213667139..213668338hg19UCSC Ensembl
Innerchr1:213667139..213668338hg19UCSC Ensembl
Outerchr1:213666879..213668613hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291283, essv10291282, essv10291280, essv10291287, essv10291286, essv10291288, essv10291284, essv10291285, essv10291281
SamplesHG01441, HG00351, HG00367, HG00261, HG02733, HG00176, HG00331, HG00375, HG00357
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588775
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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