A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626833



Internal ID6666981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74221257..74353073hg38UCSC Ensembl
chr11:73932302..74064118hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38131817
hg19131817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14212838
SamplesNA18582
Known GenesP4HA3, PGM2L1, PPME1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626833
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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