A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4e201



Internal ID22759362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7903109..7903274hg38UCSC Ensembl
chr1:7963169..7963334hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2743441, esv2740756
SamplesSSM089, SSM031
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)dgv4e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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