A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717682



Internal ID9951973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:79739330..79740572hg38UCSC Ensembl
Outerchr18:77499330..77500572hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg381243
hg191243
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
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)esv2717682
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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