A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6718527



Internal ID9786166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130674649..131281369hg38UCSC Ensembl
Outerchr2:131432222..132038942hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38606721
hg19606721
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720771
Supporting Variants
SamplesSSM044
Known GenesAMER3, ARHGEF4, CYP4F30P, FAM168B, GPR148, LOC440910, PLEKHB2, POTEE
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6718527
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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