A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643717



Internal ID7030476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12983907..12995287hg38UCSC Ensembl
chr19:13094721..13106101hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811381
hg1911381
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15995563, essv15995557, essv15995556, essv15995559, essv15995555, essv15995564, essv15995569, essv15995562, essv15995570, essv15995561, essv15995567, essv15995571, essv15995568, essv15995558, essv15995565, essv15995566, essv15995560
SamplesNA20802, NA18616, NA20796, NA20769, HG01628, NA18617, NA19189, NA20757, NA19451, NA20800, NA20760, HG03823, NA20581, NA20792, NA19083, NA18615, NA18631
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643717
Frequency
Sample Size2504
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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