A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715610



Internal ID9949897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8141570..8141923hg38UCSC Ensembl
Outerchr17:8044888..8045241hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971523, essv6796716
SamplesSSM071, SSM028
Known GenesPER1
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)esv2715610
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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