A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6674269



Internal ID9742633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41167876..41167984hg38UCSC Ensembl
Outerchr17:39324128..39324236hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715919, esv2715920
Supporting Variants
SamplesSSM031
Known GenesKRTAP4-3
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)essv6674269
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