A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264963



Internal ID1866012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200632026..200638103hg38UCSC Ensembl
Innerchr1:200632055..200638074hg38UCSC Ensembl
Outerchr1:200631997..200638132hg38UCSC Ensembl
chr1:200601154..200607231hg19UCSC Ensembl
Innerchr1:200601183..200607202hg19UCSC Ensembl
Outerchr1:200601125..200607260hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386078
hg196078
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588561
Supporting Variants
SamplesHG01766
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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