A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714773



Internal ID9949058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91668672..91669308hg38UCSC Ensembl
Outerchr1:92134229..92134865hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38637
hg19637
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv26e201
Supporting Variantsessv6736034, essv6892391, essv6933367, essv6889070, essv6785069
SamplesSSM097, SSM050, SSM021, SSM069, 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)esv2714773
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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