A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925999



Internal ID9688797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:107400155..107402871hg38UCSC Ensembl
Outerchr2:108016611..108019327hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg382717
hg192717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720482, esv2720494
Supporting Variants
SamplesSSM019
Known Genes
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)essv6925999
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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