A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv93e201



Internal ID20124980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12774614..12775446hg38UCSC Ensembl
chr10:12816613..12817445hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2733251, esv2733228
SamplesSSM059, SSM027, SSM087, SSM013, SSM009, SSM050, SSM042, SSM088, SSM092, SSM018, SSM061, SSM026, SSM089, SSM017, SSM031, SSM066, SSM007, SSM078, SSM016, SSM055, SSM025, SSM052, SSM012
Known GenesCAMK1D
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)dgv93e201
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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