A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740912



Internal ID9975249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:3001461..3001626hg38UCSC Ensembl
Outerchr17:2904755..2904920hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6688807
SamplesSSM035
Known GenesRAP1GAP2
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)esv2740912
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