A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12116447



Internal ID2118263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159952005..160051796hg38UCSC Ensembl
chr5:159379012..159478803hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3899792
hg1999792
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607356
Supporting Variants
SamplesHG01528
Known GenesADRA1B, TTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12116447
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