A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10269662



Internal ID6897654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204601012..204603263hg38UCSC Ensembl
Innerchr1:204601020..204603256hg38UCSC Ensembl
Outerchr1:204601005..204603271hg38UCSC Ensembl
chr1:204570140..204572391hg19UCSC Ensembl
Innerchr1:204570148..204572384hg19UCSC Ensembl
Outerchr1:204570133..204572399hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382252
hg192252
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588623
Supporting Variants
SamplesNA21108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10269662
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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