A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592009



Internal ID6979336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112559751..112563368hg38UCSC Ensembl
Innerchr2:112559901..112563218hg38UCSC Ensembl
Outerchr2:112559601..112563518hg38UCSC Ensembl
chr2:113317328..113320945hg19UCSC Ensembl
Innerchr2:113317478..113320795hg19UCSC Ensembl
Outerchr2:113317178..113321095hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383618
hg193618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10628749, essv10628747, essv10628748, essv10628750
SamplesHG02870, HG01896, HG02722, HG02646
Known GenesPOLR1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592009
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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