A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6976661



Internal ID9645663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30859677..30860021hg38UCSC Ensembl
Outerchr17:29186695..29187039hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715813, esv2715815
Supporting Variants
SamplesSSM004
Known GenesATAD5
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)essv6976661
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