A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596377



Internal ID6636648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62678720..62709990hg38UCSC Ensembl
Innerchr3:62678870..62709840hg38UCSC Ensembl
Outerchr3:62678570..62710140hg38UCSC Ensembl
chr3:62664395..62695665hg19UCSC Ensembl
Innerchr3:62664545..62695515hg19UCSC Ensembl
Outerchr3:62664245..62695815hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3831271
hg1931271
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11026520, essv11026522, essv11026523, essv11026521, essv11026524, essv11026517, essv11026519, essv11026518, essv11026525
SamplesHG03478, HG02946, HG03571, NA18505, HG02941, HG02922, NA19711, NA18879, NA19475
Known GenesCADPS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596377
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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