A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307601



Internal ID14807863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52064853..52064854hg38UCSC Ensembl
Innerchr6:52064831..52064876hg38UCSC Ensembl
Outerchr6:52064830..52064877hg38UCSC Ensembl
chr6:51929651..51929652hg19UCSC Ensembl
Innerchr6:51929629..51929674hg19UCSC Ensembl
Outerchr6:51929628..51929675hg19UCSC Ensembl
chr6:52037610..52037611hg18UCSC Ensembl
Innerchr6:52037633..52037588hg18UCSC Ensembl
Outerchr6:52037587..52037634hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38308
hg19308
hg18308
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7765785, essv7769619, essv7769676, essv7766773, essv7769288, essv7768523, essv7768843, essv7765219
SamplesNA12815, NA12287, NA19239, NA12814, NA11894, NA19238, NA12872, NA19141
Known GenesPKHD1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307601
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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