A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10293488



Internal ID295304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216134945..216223630hg38UCSC Ensembl
Innerchr1:216134950..216223625hg38UCSC Ensembl
Outerchr1:216134940..216223635hg38UCSC Ensembl
chr1:216308287..216396972hg19UCSC Ensembl
Innerchr1:216308292..216396967hg19UCSC Ensembl
Outerchr1:216308282..216396977hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3888686
hg1988686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588823
Supporting Variants
SamplesHG02585
Known GenesUSH2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10293488
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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