A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828117



Internal ID10228788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:64340978..64341341hg38UCSC Ensembl
Outerchr15:64633177..64633540hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749781
Supporting Variants
SamplesSSM080
Known GenesCSNK1G1
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)essv6828117
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