A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6843167



Internal ID10242330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37418896..37422319hg38UCSC Ensembl
Outerchr17:35778980..35782425hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383424
hg193446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715889
Supporting Variants
SamplesSSM084
Known GenesTADA2A
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)essv6843167
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