A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852308



Internal ID10250559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63501313..63501449hg38UCSC Ensembl
Outerchr17:61578674..61578810hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716094, esv2716096
Supporting Variants
SamplesSSM086
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)essv6852308
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