A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643342



Internal ID6683422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:266428..341459hg38UCSC Ensembl
chr19:266428..341459hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875032
hg1975032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961919, essv15961917, essv15961920, essv15961918
SamplesNA19430, NA19449, HG03986, HG03837
Known GenesMIER2, PPAP2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643342
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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