A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730313



Internal ID10313949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75474807..75474941hg38UCSC Ensembl
Outerchr5:74770632..74770766hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693936
SamplesSSM037
Known GenesCOL4A3BP
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)esv2730313
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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