A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv26e201



Internal ID20124913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91668449..91669308hg38UCSC Ensembl
chr1:92134006..92134865hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38860
hg19860
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2714773, esv2714762
SamplesSSM059, SSM097, SSM013, SSM050, SSM021, SSM069, SSM029, SSM017, SSM031, SSM001, SSM004, SSM098
Known Genes
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)dgv26e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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