A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6732531



Internal ID10143323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:67770976..67771373hg38UCSC Ensembl
Outerchr15:68063314..68063711hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749805
Supporting Variants
SamplesSSM047
Known GenesMAP2K5
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)essv6732531
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