A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587752



Internal ID6975175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162642116..162643676hg38UCSC Ensembl
Innerchr1:162642209..162643626hg38UCSC Ensembl
Outerchr1:162642066..162643726hg38UCSC Ensembl
chr1:162611906..162613466hg19UCSC Ensembl
Innerchr1:162611999..162613416hg19UCSC Ensembl
Outerchr1:162611856..162613516hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381561
hg191561
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10170021, essv10170017, essv10170022, essv10170023, essv10170020, essv10170024, essv10170018, essv10170019
SamplesNA19909, HG02852, HG03126, HG02536, HG02820, NA18499, HG02586, HG02805
Known GenesDDR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587752
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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