A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626780



Internal ID7013610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71521100..71539367hg38UCSC Ensembl
chr11:71232146..71250413hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3818268
hg1918268
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14210471, essv14210470, essv14210472
SamplesNA19451, HG02084, NA19431
Known GenesKRTAP5-7, KRTAP5-8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626780
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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