A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635003



Internal ID7021803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77385422..77392394hg38UCSC Ensembl
chr14:77851765..77858737hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg386973
hg196973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15069093, essv15069096, essv15069095, essv15069094, essv15069092, essv15069100, essv15069099, essv15069097, essv15069102, essv15069104, essv15069103, essv15069098, essv15069101
SamplesHG03514, HG02614, HG02610, HG02642, HG02427, NA19456, HG03369, HG02881, HG01896, HG02317, HG03097, HG03066, NA19102
Known GenesSAMD15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635003
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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