A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6738954



Internal ID9652167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:102847922..102848744hg38UCSC Ensembl
Outerchr12:103241700..103242522hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746287
Supporting Variants
SamplesSSM007
Known GenesPAH
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)essv6738954
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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