A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734806



Internal ID9969136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28374857..28376160hg38UCSC Ensembl
Outerchr10:28663786..28665089hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381304
hg191304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944545, essv6668046, essv6734968, essv6724183, essv6700598, essv6749436, essv6968662, essv6779138, essv6919816, essv6976540, essv6791515, essv6948730, essv6873443, essv6935770, essv6927659, essv6897405, essv6884869, essv6755283, essv6735887
SamplesSSM024, SSM045, SSM023, SSM058, SSM021, SSM029, SSM017, SSM019, SSM067, SSM001, SSM007, SSM091, SSM070, SSM095, SSM004, SSM099, SSM049, SSM056, SSM030
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)esv2734806
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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