A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643343



Internal ID6683423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:286841..307454hg38UCSC Ensembl
chr19:286841..307454hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3820614
hg1920614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15961923, essv15961921, essv15961922
SamplesNA19334, NA19429, HG00629
Known GenesMIER2, PPAP2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643343
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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