A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745577



Internal ID3293529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13846589..13846739hg38UCSC Ensembl
Outerchr12:13999523..13999673hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6809371
SamplesSSM075
Known GenesGRIN2B
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)esv2745577
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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