A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924380



Internal ID10033759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:70733143..70733668hg38UCSC Ensembl
Outerchr12:71126923..71127448hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746025
Supporting Variants
SamplesSSM018
Known GenesPTPRR
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)essv6924380
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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