A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721267



Internal ID10304903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:190365816..190366004hg38UCSC Ensembl
Outerchr2:191230542..191230730hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38189
hg19189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6950993, essv6920507, essv6880738, essv6825460, essv6801941, essv6697303, essv6700093, essv6821607, essv6672421, essv6926056, essv6847798, essv6875038, essv6955492, essv6832990, essv6739202
SamplesSSM011, SSM079, SSM038, SSM039, SSM073, SSM092, SSM026, SSM019, SSM094, SSM003, SSM082, SSM005, SSM080, SSM025, SSM052
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)esv2721267
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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