A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv415e201



Internal ID22759773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41865277..41865813hg38UCSC Ensembl
chr17:40021530..40022066hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2715942, esv2715944
SamplesSSM083, SSM071, SSM027, SSM045, SSM046, SSM064, SSM065, SSM039, SSM041, SSM028, SSM047, SSM018, SSM069, SSM026, SSM017, SSM067, SSM086, SSM066, SSM072, SSM020, SSM015, SSM080, SSM070, SSM043
Known GenesKLHL11
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)dgv415e201
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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