A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715790



Internal ID10299426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28453338..28456465hg38UCSC Ensembl
Outerchr17:26780356..26783483hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913294, essv6756051, essv6744466, essv6945716, essv6706816, essv6824296, essv6784282, essv6688831, essv6941072, essv6949793, essv6728960, essv6882806, essv6735601, essv6816026, essv6871786, essv6788472, essv6928500, essv6692160, essv6852254, essv6885522, essv6741615, essv6758659, essv6714965, essv6682211, essv6879959, essv6831959, essv6874146, essv6843160, essv6769014
SamplesSSM059, SSM036, SSM024, SSM046, SSM011, SSM064, SSM079, SSM093, SSM023, SSM058, SSM084, SSM069, SSM019, SSM035, SSM094, SSM086, SSM033, SSM006, SSM068, SSM081, SSM040, SSM015, SSM053, SSM077, SSM022, SSM091, SSM095, SSM052, SSM049
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)esv2715790
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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