A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6696334



Internal ID9761087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75212287..75212435hg38UCSC Ensembl
Outerchr17:73208382..73208530hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716236
Supporting Variants
SamplesSSM037
Known GenesNUP85
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)essv6696334
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