A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13868306



Internal ID700658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79544920..79635006hg38UCSC Ensembl
chr10:81304676..81394762hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3890087
hg1990087
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623916
Supporting Variants
SamplesHG00329
Known GenesSFTPA1, SFTPA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13868306
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