A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv782e201



Internal ID22760140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155619118..155619301hg38UCSC Ensembl
chr3:155336907..155337090hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2726088, esv2726086
SamplesSSM083, SSM071, SSM027, SSM079, SSM065, SSM013, SSM042, SSM023, SSM028, SSM084, SSM090, SSM021, SSM029, SSM031, SSM067, SSM086, SSM066, SSM022, SSM025, SSM043, SSM098
Known GenesPLCH1
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)dgv782e201
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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