A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731906



Internal ID10315542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6127195..6127891hg38UCSC Ensembl
Outerchr10:6169158..6169854hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876397, essv6976478, essv6702070, essv6787395, essv6681262, essv6830980, essv6896009, essv6755259, essv6968485, essv6819255, essv6740759, essv6765555, essv6672577, essv6768754
SamplesSSM008, SSM039, SSM058, SSM092, SSM069, SSM029, SSM031, SSM033, SSM081, SSM078, SSM004, SSM052, SSM063, SSM012
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)esv2731906
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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