A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10239961



Internal ID2984424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193568745..193569822hg38UCSC Ensembl
Innerchr1:193568752..193569816hg38UCSC Ensembl
Outerchr1:193568739..193569829hg38UCSC Ensembl
chr1:193537875..193538952hg19UCSC Ensembl
Innerchr1:193537882..193538946hg19UCSC Ensembl
Outerchr1:193537869..193538959hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588369
Supporting Variants
SamplesHG02634
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10239961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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