A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716253



Internal ID9950541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:76292234..76292702hg38UCSC Ensembl
Outerchr17:74288315..74288783hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843204, essv6710087, essv6916812, essv6920983, essv6772806, essv6839355, essv6901151
SamplesSSM100, SSM083, SSM065, SSM041, SSM084, SSM017, SSM016
Known GenesQRICH2
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)esv2716253
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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