A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv201e201



Internal ID20125088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124373200..124373657hg38UCSC Ensembl
chr12:124857746..124858203hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2746533, esv2746535
SamplesSSM027, SSM084, SSM078, SSM031, SSM032, SSM067, SSM093, SSM079, SSM075, SSM026, SSM098, SSM070, SSM080
Known GenesNCOR2
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)dgv201e201
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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