A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6730673



Internal ID10141088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:60651954..60653362hg38UCSC Ensembl
Outerchr5:59947781..59949189hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730238
Supporting Variants
SamplesSSM047
Known GenesDEPDC1B
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)essv6730673
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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