A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717516



Internal ID9951807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78400387..78400977hg38UCSC Ensembl
Outerchr18:76160387..76160977hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668632, essv6909655, essv6873098, essv6674518, essv6902076, essv6696469, essv6717667, essv6971726, essv6810015, essv6721514, essv6945931, essv6839458, essv6792746, essv6913477, essv6921113, essv6710195, essv6858500, essv6852537, essv6682378, essv6843336, essv6769148, essv6945952, essv6916921, essv6692305, essv6678673, essv6776502, essv6932785, essv6895402, essv6925162, essv6784458, essv6725337, essv6949983, essv6824466, essv6713760, essv6801137, essv6779698, essv6941259, essv6871340
SamplesSSM036, SSM008, SSM083, SSM024, SSM075, SSM045, SSM011, SSM064, SSM079, SSM087, SSM042, SSM041, SSM023, SSM028, SSM084, SSM090, SSM018, SSM017, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM033, SSM066, SSM068, SSM072, SSM020, SSM015, SSM016, SSM037, SSM022, SSM070, SSM043, SSM098, SSM030, SSM012
Known Genes
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)esv2717516
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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