A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925004



Internal ID9688345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44848459..44848724hg38UCSC Ensembl
Outerchr17:42925827..42926092hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715966
Supporting Variants
SamplesSSM018
Known GenesHIGD1B
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)essv6925004
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