A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720537



Internal ID9954833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112584384..112584955hg38UCSC Ensembl
Outerchr2:113341961..113342532hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6926000
SamplesSSM019
Known GenesCHCHD5
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)esv2720537
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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