A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608826



Internal ID6995750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44180609..44184716hg38UCSC Ensembl
chr6:44148346..44152453hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384108
hg194108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12332879, essv12332880, essv12332878
SamplesHG02976, HG00329, NA19431
Known GenesCAPN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608826
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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