A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6787896



Internal ID10192023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:39454352..39454650hg38UCSC Ensembl
Outerchr13:40028489..40028787hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747288
Supporting Variants
SamplesSSM069
Known GenesLHFP
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)essv6787896
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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