A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6406965



Internal ID9384368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51802158..51804564hg38UCSC Ensembl
chr6:51666956..51669362hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661375
Supporting Variants
SamplesNA19700
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6406965
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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