A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv525e201



Internal ID22759883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43206318..43285539hg38UCSC Ensembl
chr19:43710470..43789691hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3879222
hg1979222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718605, esv2718608
SamplesSSM064, SSM018, SSM061, SSM029, SSM062, SSM019, SSM006, SSM040, SSM015, SSM016, SSM004, SSM043, SSM098, SSM063
Known GenesLOC284344, PSG9
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)dgv525e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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