A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6944250



Internal ID9642503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15750860..16668282hg38UCSC Ensembl
Outerchr17:15654174..16571596hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38917423
hg19917423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715702
Supporting Variants
SamplesSSM003
Known GenesADORA2B, CDRT15P2, CENPV, FAM211A, FAM211A-AS1, MEIS3P1, MIR1288, NCOR1, PIGL, SNORD49A, SNORD49B, SNORD65, TRPV2, TTC19, UBB, ZNF287, ZNF624, ZSWIM7
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)essv6944250
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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