A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716235



Internal ID9950523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:75044100..75044577hg38UCSC Ensembl
Outerchr17:73040195..73040672hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895296, essv6763832, essv6713640, essv6750151, essv6747334, essv6901969, essv6811732, essv6744501, essv6877214, essv6920979, essv6905581, essv6735629, essv6966973, essv6764041, essv6858302, essv6828417, essv6766177, essv6756088, essv6912941, essv6944807, essv6761470, essv6732874, essv6916811, essv6820508, essv6835569, essv6816061
SamplesSSM027, SSM092, SSM013, SSM053, SSM082, SSM055, SSM061, SSM042, SSM078, SSM016, SSM001, SSM077, SSM062, SSM012, SSM056, SSM017, SSM009, SSM003, SSM047, SSM002, SSM063, SSM087, SSM049, SSM098, SSM058, SSM080
Known GenesATP5H
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)esv2716235
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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