A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716099



Internal ID9950386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63873503..63918781hg38UCSC Ensembl
Outerchr17:61950863..61996141hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3845279
hg1945279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835557, essv6800992, essv6839721, essv6898143, essv6812728, essv6945756, essv6863211, essv6916799, essv6905572, essv6920965, essv6788506, essv6691887, essv6932641, essv6879989, essv6895284, essv6780162, essv6936949, essv6971590, essv6928528, essv6871251, essv6888563, essv6706853, essv6909528, essv6877205, essv6692197, essv6843195
SamplesSSM036, SSM013, SSM093, SSM088, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM069, SSM096, SSM017, SSM019, SSM067, SSM014, SSM040, SSM072, SSM082, SSM020, SSM016, SSM005, SSM076, SSM010, SSM099, SSM098
Known GenesCSH1, CSH2, CSHL1, GH1, GH2
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)esv2716099
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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