A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715298



Internal ID10298934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:395843..412230hg38UCSC Ensembl
Outerchr17:245634..262021hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3816388
hg1916388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888507, essv6696217, essv6960337
SamplesSSM096, SSM026, SSM037
Known GenesC17orf97
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)esv2715298
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer