A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6940777



Internal ID10048567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78632019..78632496hg38UCSC Ensembl
Outerchr15:78924361..78924838hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749912
Supporting Variants
SamplesSSM022
Known GenesCHRNB4
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)essv6940777
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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