A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715510



Internal ID9949797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:2948535..2948731hg38UCSC Ensembl
Outerchr17:2851829..2852025hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852202, essv6885500, essv6901093, essv6820416
SamplesSSM086, SSM078, SSM100, SSM095
Known GenesRAP1GAP2
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)esv2715510
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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