A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10187612



Internal ID5660016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170773092..170774949hg38UCSC Ensembl
Innerchr1:170773098..170774944hg38UCSC Ensembl
Outerchr1:170773087..170774955hg38UCSC Ensembl
chr1:170742233..170744090hg19UCSC Ensembl
Innerchr1:170742239..170744085hg19UCSC Ensembl
Outerchr1:170742228..170744096hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381858
hg191858
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587904
Supporting Variants
SamplesNA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10187612
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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