A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599414



Internal ID6639678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2945618..2955805hg38UCSC Ensembl
chr4:2947345..2957532hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3810188
hg1910188
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11317187
SamplesHG00732
Known GenesNOP14, NOP14-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599414
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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