A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588369



Internal ID6975785
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10239962, essv10239963, essv10239961
SamplesHG02634, HG02885, HG02820
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588369
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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