A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10438528



Internal ID440344
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590168
Supporting Variants
SamplesNA20809
Known GenesFAM179A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10438528
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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