A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593500



Internal ID6980824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179008358..179017299hg38UCSC Ensembl
Innerchr2:179008368..179017290hg38UCSC Ensembl
Outerchr2:179008349..179017309hg38UCSC Ensembl
chr2:179873085..179882026hg19UCSC Ensembl
Innerchr2:179873095..179882017hg19UCSC Ensembl
Outerchr2:179873076..179882036hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg388942
hg198942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10779434, essv10779432, essv10779430, essv10779436, essv10779431, essv10779435, essv10779426, essv10779437, essv10779425, essv10779433, essv10779427, essv10779428, essv10779429
SamplesHG03857, HG04222, NA20878, NA21115, HG04164, HG03808, HG03928, HG03781, HG03730, NA21087, HG04134, HG04099, HG01991
Known GenesCCDC141
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593500
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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