A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6673781



Internal ID10089756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:28590742..28833953hg38UCSC Ensembl
Outerchr15:28835888..29079099hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38243212
hg19243212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749506
Supporting Variants
SamplesSSM031
Known GenesGOLGA8M, HERC2P9, LOC100289656, LOC646278, WHAMMP2
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)essv6673781
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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