A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628759



Internal ID7015582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19369624..19391222hg38UCSC Ensembl
chr12:19522558..19544156hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3821599
hg1921599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401381, essv14401386, essv14401382, essv14401379, essv14401378, essv14401384, essv14401389, essv14401383, essv14401387, essv14401380, essv14401385, essv14401388
SamplesNA20783, HG01503, HG03490, NA20515, NA20755, HG00743, NA20854, HG01104, NA19834, HG01375, NA20516, NA20503
Known GenesPLEKHA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628759
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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