A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv50e201



Internal ID22759408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223636534..223637114hg38UCSC Ensembl
chr1:223824236..223824816hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38581
hg19581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2723484, esv2743203, esv2741304, esv2741535
SamplesSSM087, SSM097, SSM073, SSM088, SSM057, SSM028, SSM061, SSM026, SSM089, SSM035, SSM031, SSM014, SSM081, SSM078, SSM080, SSM037, SSM025, SSM049
Known GenesCAPN8
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)dgv50e201
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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