A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741258



Internal ID10148659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99025804..99026305hg38UCSC Ensembl
Outerchr13:99678058..99678559hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747871, esv2747870
Supporting Variants
SamplesSSM052
Known GenesDOCK9
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)essv6741258
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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