A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv176e201



Internal ID22759534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14002319..14002764hg38UCSC Ensembl
chr12:14155253..14155698hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2745580, esv2743222, esv2741366, esv2740789, esv2742298
SamplesSSM023, SSM096, SSM026, SSM003, SSM031, SSM085, SSM080, SSM077, SSM099, SSM043, SSM052
Known Genes
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)dgv176e201
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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