A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2717682

Internal ID9951973
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79739330..79740572hg38UCSC Ensembl
Outerchr18:77499330..77500572hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852566, essv6735719, essv6738483, essv6913819, essv6840620, essv6733010, essv6945953, essv6769162, essv6779822, essv6885646, essv6772956, essv6916938, essv6763902, essv6666164, essv6744602, essv6960745, essv6692324, essv6750268, essv6807010, essv6804119, essv6921134, essv6761563, essv6713778, essv6863404, essv6696492, essv6668638, essv6967211, essv6788661, essv6747430, essv6674551, essv6682395, essv6858526, essv6873231, essv6835703, essv6753184, essv6909668, essv6756196, essv6812827, essv6954176, essv6868196, essv6925178, essv6776517, essv6766243, essv6820674, essv6843356, essv6913498, essv6717685, essv6758783, essv6941276, essv6846586, essv6905712, essv6971752
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM082, SSM086, SSM036, SSM055, SSM033, SSM084, SSM061, SSM042, SSM078, SSM043, SSM088, SSM089, SSM064, SSM031, SSM025, SSM016, SSM057, SSM050, SSM062, SSM056, SSM085, SSM017, SSM011, SSM066, SSM028, SSM029, SSM095, SSM030, SSM047, SSM073, SSM069, SSM002, SSM037, SSM063, SSM087, SSM023, SSM074, SSM015, SSM026, SSM014, SSM049, SSM008, SSM018, SSM076, SSM058, SSM059
Known GenesCTDP1
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2717682
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0

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