A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395609



Internal ID14895887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52064864..52064883hg38UCSC Ensembl
Innerchr6:52064860..52064887hg38UCSC Ensembl
Outerchr6:52064841..52064906hg38UCSC Ensembl
chr6:51929662..51929681hg19UCSC Ensembl
Innerchr6:51929658..51929685hg19UCSC Ensembl
Outerchr6:51929639..51929704hg19UCSC Ensembl
chr6:52037621..52037640hg18UCSC Ensembl
Innerchr6:52037644..52037617hg18UCSC Ensembl
Outerchr6:52037598..52037663hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9627558, essv9627569, essv9627580
SamplesNA12815, NA12287, NA11894
Known GenesPKHD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395609
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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