A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv626e201



Internal ID22759984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190365684..190366231hg38UCSC Ensembl
chr2:191230410..191230957hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38548
hg19548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721264, esv2721266
SamplesSSM024, SSM011, SSM079, SSM065, SSM038, SSM039, SSM073, SSM092, SSM026, SSM017, SSM019, SSM094, SSM003, SSM067, SSM082, SSM005, SSM080, SSM022, SSM091, SSM025, SSM052, SSM012
Known GenesINPP1
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)dgv626e201
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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