A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10169192



Internal ID171008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161833758..161834985hg38UCSC Ensembl
Innerchr1:161833760..161834983hg38UCSC Ensembl
Outerchr1:161833756..161834987hg38UCSC Ensembl
chr1:161803548..161804775hg19UCSC Ensembl
Innerchr1:161803550..161804773hg19UCSC Ensembl
Outerchr1:161803546..161804777hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381228
hg191228
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587737
Supporting Variants
SamplesNA19184
Known GenesATF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10169192
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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