A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634754



Internal ID7021555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64548203..64554513hg38UCSC Ensembl
chr14:65014921..65021231hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386311
hg196311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15040784, essv15040783, essv15040780, essv15040776, essv15040774, essv15040781, essv15040782, essv15040773, essv15040777, essv15040775, essv15040779, essv15040785, essv15040778
SamplesHG01443, HG01066, HG00315, NA19684, HG00097, NA12156, HG01550, HG00743, NA10847, NA20535, HG00380, HG00320, HG01551
Known GenesPPP1R36
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634754
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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