A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11925305



Internal ID2271354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61687900..61698848hg38UCSC Ensembl
chr5:60983727..60994675hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3810949
hg1910949
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605221
Supporting Variants
SamplesHG02028
Known GenesC5orf64
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11925305
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