A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6877168



Internal ID9926246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15750827..16668328hg38UCSC Ensembl
Outerchr17:15654141..16571642hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38917502
hg19917502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715702
Supporting Variants
SamplesSSM092
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)essv6877168
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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