A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751775



Internal ID9654901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:106321917..106322322hg38UCSC Ensembl
Outerchr2:106938373..106938778hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720489, esv2720482
Supporting Variants
SamplesSSM008
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)essv6751775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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