A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747875



Internal ID9982159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:99669768..100007232hg38UCSC Ensembl
Outerchr13:100322022..100659486hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg38337465
hg19337465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6803638, essv6685257, essv6806535, essv6752712, essv6735323, essv6772262, essv6702657, essv6713178, essv6885215, essv6746996, essv6709668, essv6936363, essv6857527, essv6744167, essv6761112, essv6901155, essv6739954
SamplesSSM065, SSM087, SSM039, SSM073, SSM074, SSM042, SSM041, SSM057, SSM021, SSM061, SSM007, SSM053, SSM055, SSM095, SSM034, SSM049, SSM012
Known GenesCLYBL, LINC00554, ZIC2, ZIC5
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)esv2747875
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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