A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv526e201



Internal ID22759884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44141305..44141660hg38UCSC Ensembl
chr19:44645458..44645813hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742866, esv2742986
SamplesSSM017, SSM020
Known GenesZNF234
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)dgv526e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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