A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761411



Internal ID10168551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2009400..2010232hg38UCSC Ensembl
Outerchr17:1912694..1913526hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715484
Supporting Variants
SamplesSSM061
Known GenesRTN4RL1
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)essv6761411
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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