A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716186



Internal ID10299822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72553799..72554328hg38UCSC Ensembl
Outerchr17:70549939..70550468hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6788515, essv6901967, essv6877211, essv6852322
SamplesSSM092, SSM069, SSM086, SSM012
Known GenesLINC00673
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)esv2716186
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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