A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605233



Internal ID6992257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:62352619..62395105hg38UCSC Ensembl
chr5:61648446..61690932hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3842487
hg1942487
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11927017, essv11927015, essv11927016
SamplesNA18579, HG03823, HG03934
Known GenesDIMT1, KIF2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605233
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