A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644345



Internal ID6684413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40203124..40288712hg38UCSC Ensembl
chr19:40709031..40794619hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3885589
hg1985589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054810
SamplesNA18967
Known GenesAKT2, CNTD2, MAP3K10, MIR641, TTC9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644345
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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