A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643701



Internal ID7030460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12389549..12433614hg38UCSC Ensembl
chr19:12500363..12544428hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3844066
hg1944066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15991968, essv15991972, essv15991961, essv15991963, essv15991978, essv15991966, essv15991974, essv15991977, essv15991964, essv15991975, essv15991983, essv15991970, essv15991967, essv15991981, essv15991976, essv15991965, essv15991960, essv15991971, essv15991980, essv15991959, essv15991962, essv15991969, essv15991979, essv15991973, essv15991982
SamplesHG02610, HG02433, NA18599, HG02419, HG03193, NA20359, NA19131, NA19197, HG03212, NA12044, NA19207, HG03058, HG02345, HG02470, HG02332, HG02586, HG02282, HG02814, HG03112, HG01912, HG02107, HG02462, HG01883, HG01775, HG03198
Known GenesZNF443, ZNF799
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643701
Frequency
Sample Size2504
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer