A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716280



Internal ID9950568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:77487033..77488020hg38UCSC Ensembl
Outerchr17:75483115..75484102hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38988
hg19988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6839798, essv6763835, essv6858310, essv6912985, essv6820516, essv6753073, essv6868045, essv6766178, essv6665900, essv6715377, essv6744504, essv6852341
SamplesSSM010, SSM053, SSM086, SSM006, SSM078, SSM089, SSM057, SSM062, SSM029, SSM002, SSM063, SSM087
Known GenesSEPT9
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)esv2716280
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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