A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12180078



Internal ID2333434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5728202..5729716hg38UCSC Ensembl
Innerchr6:5728202..5729716hg38UCSC Ensembl
Outerchr6:5727876..5730032hg38UCSC Ensembl
chr6:5728435..5729949hg19UCSC Ensembl
Innerchr6:5728435..5729949hg19UCSC Ensembl
Outerchr6:5728109..5730265hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg381515
hg191515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607981
Supporting Variants
SamplesHG02075
Known GenesFARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12180078
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