A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714740



Internal ID9949025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91199629..91199735hg38UCSC Ensembl
Outerchr1:91665186..91665292hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954858
SamplesSSM026
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)esv2714740
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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