A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6971508



Internal ID10073811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:914130..914372hg38UCSC Ensembl
Outerchr17:817370..817612hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715387
Supporting Variants
SamplesSSM028
Known GenesNXN
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)essv6971508
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