A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716100



Internal ID9950387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:63884107..63906357hg38UCSC Ensembl
Outerchr17:61961467..61983717hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg3822251
hg1922251
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, 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, SSM019, SSM067, SSM014, SSM040, SSM072, SSM082, SSM020, SSM016, SSM005, SSM076, SSM010, SSM099, SSM098
Known GenesCSH1
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)esv2716100
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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