A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954775



Internal ID10063669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31908133..31908288hg38UCSC Ensembl
Outerchr1:32373734..32373889hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746463, esv2746475
Supporting Variants
SamplesSSM026
Known GenesPTP4A2
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)essv6954775
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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