A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587737



Internal ID6628038
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10169193, essv10169194, essv10169192
SamplesNA19184, NA19376, NA19454
Known GenesATF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587737
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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