A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715659



Internal ID10299295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:12293234..12293586hg38UCSC Ensembl
Outerchr17:12196551..12196903hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38353
hg19353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6678486, essv6867962, essv6812689, essv6796720, essv6891811, essv6871620, essv6706795, essv6788451, essv6909486, essv6858211, essv6674227, essv6831945, essv6828360, essv6713583, essv6882796, essv6966867, essv6863155, essv6835513, essv6665773, essv6728942, essv6820430, essv6885510, essv6703134, essv6824278, essv6901103, essv6691510, essv6932588, essv6692146, essv6688815, essv6710033, essv6898096, essv6852223, essv6960395, essv6945698, essv6685614, essv6879945
SamplesSSM100, SSM036, SSM071, SSM027, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM042, SSM088, SSM041, SSM023, SSM069, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM014, SSM086, SSM081, SSM040, SSM082, SSM020, SSM078, SSM005, SSM080, SSM076, SSM095, SSM034, SSM099
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)esv2715659
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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