A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594106



Internal ID6634382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208112819..208121641hg38UCSC Ensembl
chr2:208977543..208986365hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388823
hg198823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10832956
SamplesNA19201
Known GenesCRYGD, LOC100507443
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594106
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