A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6759372



Internal ID9820031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188980148..188980713hg38UCSC Ensembl
Outerchr2:189844874..189845439hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721255
Supporting Variants
SamplesSSM061
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)essv6759372
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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