A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715702



Internal ID9949989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15750514..16668268hg38UCSC Ensembl
Outerchr17:15653828..16571582hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38917755
hg19917755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920914, essv6738343, essv6788459, essv6769002, essv6721340, essv6696263, essv6852236, essv6944250, essv6756041, essv6916755, essv6792552, essv6692150, essv6800948, essv6688824, essv6743332, essv6725149, essv6913278, essv6699178, essv6898106, essv6877168
SamplesSSM007, SSM092, SSM086, SSM036, SSM099, SSM064, SSM035, SSM072, SSM016, SSM045, SSM050, SSM017, SSM003, SSM069, SSM037, SSM038, SSM044, SSM015, SSM058, SSM070
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)esv2715702
Frequency
Sample Size96
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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