A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716301



Internal ID10299937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78115273..78116425hg38UCSC Ensembl
Outerchr17:76111354..76112506hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381153
hg191153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916814, essv6846504, essv6868049, essv6920988, essv6858313, essv6713645, essv6966982, essv6763836, essv6792618, essv6801007, essv6735634, essv6877218, essv6843209, essv6756093, essv6909547, essv6828423, essv6888575, essv6766179, essv6741657, essv6753074, essv6936967, essv6901975, essv6750157, essv6729021, essv6839809, essv6852344, essv6863232, essv6868048, essv6820521, essv6674335, essv6852345, essv6880008, essv6764375, essv6898161, essv6960511, essv6806912
SamplesSSM027, SSM046, SSM087, SSM093, SSM074, SSM042, SSM088, SSM057, SSM058, SSM092, SSM084, SSM021, SSM096, SSM062, SSM026, SSM089, SSM017, SSM031, SSM001, SSM014, SSM086, SSM085, SSM072, SSM078, SSM016, SSM080, SSM010, SSM070, SSM099, SSM052, SSM049, SSM056, SSM063, SSM012
Known GenesTMC6
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)esv2716301
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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