A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867662



Internal ID9917691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40037607..40037674hg38UCSC Ensembl
Outerchr15:40329808..40329875hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749595, esv2749592, esv2749593, esv2749594
Supporting Variants
SamplesSSM089
Known GenesSRP14
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)essv6867662
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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