A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741584



Internal ID10151364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:820406..821685hg38UCSC Ensembl
Outerchr17:723646..724925hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381280
hg191280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715369
Supporting Variants
SamplesSSM052
Known GenesNXN
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)essv6741584
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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