A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772741



Internal ID10178500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:6274232..6274606hg38UCSC Ensembl
Outerchr17:6177552..6177926hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38375
hg19375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715583
Supporting Variants
SamplesSSM065
Known Genes
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)essv6772741
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