A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6768632



Internal ID9654339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:2770247..3706422hg38UCSC Ensembl
Outerchr10:2812439..3748614hg19UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38936176
hg19936176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730995
Supporting Variants
SamplesSSM008
Known GenesPFKP, PITRM1, PITRM1-AS1
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)essv6768632
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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