A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938115



Internal ID9699279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980219..188980606hg38UCSC Ensembl
Outerchr2:189844945..189845332hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721255
Supporting Variants
SamplesSSM022
Known GenesCOL3A1
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)essv6938115
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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