A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733395



Internal ID10317031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:13473305..13473842hg38UCSC Ensembl
Outerchr10:13515305..13515842hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6897392, essv6795683, essv6873435, essv6668038, essv6712715, essv6775402, essv6890970, essv6755273, essv6672606, essv6783195, essv6728000, essv6768244, essv6830990, essv6900383, essv6976508, essv6734958, essv6749426, essv6819277, essv6968607, essv6923976, essv6832454, essv6845685, essv6763171, essv6894368, essv6771745, essv6757994, essv6838308
SamplesSSM100, SSM059, SSM083, SSM071, SSM046, SSM064, SSM065, SSM097, SSM042, SSM058, SSM018, SSM029, SSM062, SSM031, SSM066, SSM085, SSM068, SSM081, SSM078, SSM010, SSM091, SSM004, SSM099, SSM098, SSM049, SSM056, SSM030
Known GenesBEND7
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)esv2733395
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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