A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6929543



Internal ID9693963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980212..188980627hg38UCSC Ensembl
Outerchr2:189844938..189845353hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721255
Supporting Variants
SamplesSSM020
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)essv6929543
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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