A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731140



Internal ID9965457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:3084544..3084800hg38UCSC Ensembl
Outerchr10:3126736..3126992hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672557, essv6931439, essv6965180, essv6795658
SamplesSSM071, SSM027, SSM031, SSM020
Known GenesPFKP
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)esv2731140
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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