A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590166



Internal ID6977495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28883720..28894480hg38UCSC Ensembl
Innerchr2:28884220..28893980hg38UCSC Ensembl
Outerchr2:28882720..28895480hg38UCSC Ensembl
chr2:29106586..29117346hg19UCSC Ensembl
Innerchr2:29107086..29116846hg19UCSC Ensembl
Outerchr2:29105586..29118346hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3810761
hg1910761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438519, essv10438520, essv10438521, essv10438518, essv10438517, essv10438525, essv10438516, essv10438524, essv10438523, essv10438522
SamplesNA19058, HG02050, NA18633, HG01847, NA18948, NA19064, NA19001, HG02031, HG00410, NA18978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590166
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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