A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590168



Internal ID6630455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28985099..28989641hg38UCSC Ensembl
Innerchr2:28985106..28989635hg38UCSC Ensembl
Outerchr2:28985093..28989648hg38UCSC Ensembl
chr2:29207965..29212507hg19UCSC Ensembl
Innerchr2:29207972..29212501hg19UCSC Ensembl
Outerchr2:29207959..29212514hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384543
hg194543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10438528, essv10438527
SamplesNA20809, NA19663
Known GenesFAM179A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590168
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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