A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054809



Internal ID6056625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40191059..40328585hg38UCSC Ensembl
chr19:40696966..40834492hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38137527
hg19137527
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644344
Supporting Variants
SamplesNA18967
Known GenesAKT2, C19orf47, CNTD2, MAP3K10, MIR641, TTC9B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054809
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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