A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715484



Internal ID10299120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2009253..2010235hg38UCSC Ensembl
Outerchr17:1912547..1913529hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38983
hg19983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6717449, essv6888518, essv6858183, essv6761411, essv6874121, essv6852199, essv6665735, essv6753005, essv6949758, essv6777644, essv6811044, essv6744444, essv6858184
SamplesSSM008, SSM024, SSM087, SSM009, SSM057, SSM061, SSM029, SSM096, SSM086, SSM053, SSM091, SSM043
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)esv2715484
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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