A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444976



Internal ID14945242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52064864..52064877hg38UCSC Ensembl
Innerchr6:52064859..52064882hg38UCSC Ensembl
Outerchr6:52064846..52064895hg38UCSC Ensembl
chr6:51929662..51929675hg19UCSC Ensembl
Innerchr6:51929657..51929680hg19UCSC Ensembl
Outerchr6:51929644..51929693hg19UCSC Ensembl
chr6:52037621..52037634hg18UCSC Ensembl
Innerchr6:52037639..52037616hg18UCSC Ensembl
Outerchr6:52037603..52037652hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676446, essv8676447
SamplesNA19239, NA19238
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444976
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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