A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv641e201



Internal ID22759999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239231652..239231843hg38UCSC Ensembl
chr2:240153348..240153539hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721826, esv2721824
SamplesSSM036, SSM071, SSM027, SSM011, SSM087, SSM093, SSM042, SSM023, SSM029, SSM026, SSM032, SSM031, SSM020, SSM022
Known GenesHDAC4
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)dgv641e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer