A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308201



Internal ID14808463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52064862..52064863hg38UCSC Ensembl
Innerchr6:52064834..52064891hg38UCSC Ensembl
Outerchr6:52064833..52064892hg38UCSC Ensembl
chr6:51929660..51929661hg19UCSC Ensembl
Innerchr6:51929632..51929689hg19UCSC Ensembl
Outerchr6:51929631..51929690hg19UCSC Ensembl
chr6:52037619..52037620hg18UCSC Ensembl
Innerchr6:52037648..52037591hg18UCSC Ensembl
Outerchr6:52037590..52037649hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837103, essv7838944
SamplesNA19239, NA19238
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308201
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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