A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716098



Internal ID10299734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63863661..63887376hg38UCSC Ensembl
Outerchr17:61941021..61964736hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3823716
hg1923716
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761461, essv6831990, essv6949834, essv6763826, essv6877204, essv6699209, essv6750139, essv6758684, essv6665867, essv6898141, essv6941107, essv6776372, essv6913331, essv6753060, essv6715266, essv6668566, essv6744493, essv6738380, essv6766170, essv6920964, essv6901958, essv6858284, essv6905571, essv6741643, essv6820484, essv6811643, essv6912863, essv6874182, essv6743776, essv6763264, essv6960466
SamplesSSM059, SSM024, SSM087, SSM038, SSM013, SSM009, SSM050, SSM002, SSM057, SSM092, SSM061, SSM029, SSM062, SSM026, SSM017, SSM001, SSM066, SSM006, SSM081, SSM007, SSM015, SSM078, SSM053, SSM022, SSM091, SSM099, SSM052, SSM056, SSM030, SSM063, SSM012
Known GenesCSH2, GH2, TCAM1P
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)esv2716098
Frequency
Sample Size96
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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