A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6949752



Internal ID10054531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:805963..806424hg38UCSC Ensembl
Outerchr17:709203..709664hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715364
Supporting Variants
SamplesSSM024
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)essv6949752
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