A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6743110



Internal ID9999227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:894020..894769hg38UCSC Ensembl
Outerchr17:797260..798009hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715383
Supporting Variants
SamplesSSM007
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)essv6743110
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