A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622363



Internal ID6662533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12200775..12828318hg38UCSC Ensembl
Innerchr10:12200925..12828168hg38UCSC Ensembl
Outerchr10:12200625..12828468hg38UCSC Ensembl
chr10:12242774..12870317hg19UCSC Ensembl
Innerchr10:12242924..12870167hg19UCSC Ensembl
Outerchr10:12242624..12870467hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38627544
hg19627544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13696268
SamplesHG03061
Known GenesCAMK1D, CDC123, MIR4480
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622363
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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