A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1022e201



Internal ID22760380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146812456..146819586hg38UCSC Ensembl
chr6:147133592..147140722hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387131
hg197131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743385, esv2740838, esv2742481, esv2741555, esv2742762, esv2741413, esv2741460, esv2742126, esv2741587
SamplesSSM008, SSM057, SSM092, SSM029, SSM033, SSM015, SSM010, SSM055, SSM063
Known GenesADGB
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)dgv1022e201
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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