A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605510



Internal ID6972440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78515204..78519966hg38UCSC Ensembl
chr5:77811027..77815789hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg384763
hg194763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11950262
SamplesHG03969
Known GenesLHFPL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605510
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