A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6959531



Internal ID9715233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49318434..49318643hg38UCSC Ensembl
Outerchr13:49892570..49892779hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747391
Supporting Variants
SamplesSSM026
Known GenesCAB39L
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)essv6959531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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