A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13685323



Internal ID3819498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4992214..5045006hg38UCSC Ensembl
chr10:5034406..5087198hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3852793
hg1952793
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622216
Supporting Variants
SamplesHG03458
Known GenesAKR1C2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13685323
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer