A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643853



Internal ID6683922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19653480..19657079hg38UCSC Ensembl
chr19:19764289..19767888hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16005740, essv16005732, essv16005738, essv16005737, essv16005736, essv16005739, essv16005735, essv16005728, essv16005730, essv16005731, essv16005733, essv16005734, essv16005729
SamplesHG02140, NA20351, NA19149, HG02139, HG02277, NA19735, HG01620, HG02090, NA18640, HG02278, HG01626, HG03009, NA18555
Known GenesATP13A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643853
Frequency
Sample Size2504
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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