A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv983e201



Internal ID22760341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2468185..2468974hg38UCSC Ensembl
chr6:2468419..2469208hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742565, esv2741859
SamplesSSM009, SSM012
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)dgv983e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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