A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626222



Internal ID7013056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48047077..48052643hg38UCSC Ensembl
Innerchr11:48047077..48052643hg38UCSC Ensembl
Outerchr11:48046577..48053143hg38UCSC Ensembl
chr11:48068629..48074195hg19UCSC Ensembl
Innerchr11:48068629..48074195hg19UCSC Ensembl
Outerchr11:48068129..48074695hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385567
hg195567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14123826
SamplesNA18979
Known GenesPTPRJ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626222
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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