A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv216e201



Internal ID20125103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132304416..132305596hg38UCSC Ensembl
chr12:132881002..132882182hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743225, esv2740965, esv2741257, esv2741909, esv2742614, esv2740845, esv2742196
SamplesSSM082, SSM033, SSM072, SSM037, SSM046, SSM026, SSM098
Known GenesGALNT9
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)dgv216e201
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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