A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630770



Internal ID7017585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111861669..111872939hg38UCSC Ensembl
chr12:112299473..112310743hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg3811271
hg1911271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14605097, essv14605095, essv14605096, essv14605098
SamplesHG01624, HG01372, HG01524, HG00133
Known GenesMAPKAPK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630770
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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