A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6721103



Internal ID10130535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:78632215..78632386hg38UCSC Ensembl
Outerchr15:78924557..78924728hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749912, esv2749913
Supporting Variants
SamplesSSM044
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)essv6721103
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer