A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745557



Internal ID9979841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11267413..11267623hg38UCSC Ensembl
Outerchr12:11420347..11420557hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6732125, essv6695530, essv6931832, essv6842433, essv6838615, essv6959245, essv6724490, essv6894637, essv6691591
SamplesSSM036, SSM083, SSM045, SSM084, SSM047, SSM026, SSM020, SSM037, SSM098
Known GenesPRB3
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)esv2745557
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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