A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715467



Internal ID10299103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1549388..1549921hg38UCSC Ensembl
Outerchr17:1452682..1453215hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38534
hg19534
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960366, essv6780086, essv6756027, essv6768986, essv6811032, essv6858180, essv6777633, essv6741588, essv6761408, essv6820410, essv6665732, essv6668518, essv6714776, essv6717448
SamplesSSM008, SSM064, SSM087, SSM009, SSM058, SSM061, SSM029, SSM026, SSM067, SSM006, SSM078, SSM043, SSM052, SSM030
Known GenesPITPNA
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)esv2715467
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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