A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587727



Internal ID6975150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161294407..161295558hg38UCSC Ensembl
Innerchr1:161294409..161295557hg38UCSC Ensembl
Outerchr1:161294406..161295560hg38UCSC Ensembl
chr1:161264197..161265348hg19UCSC Ensembl
Innerchr1:161264199..161265347hg19UCSC Ensembl
Outerchr1:161264196..161265350hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10168316
SamplesNA21120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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