A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837103



Internal ID14691756
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 StatusS
Merged Variantsesv3308201
Supporting Variants
SamplesNA19239
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837103
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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