A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715384



Internal ID10299020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:894397..894559hg38UCSC Ensembl
Outerchr17:797637..797799hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852188, essv6960349, essv6674198, essv6867934, essv6858171, essv6863129, essv6966826
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM086
Known GenesNXN
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)esv2715384
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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