A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439889



Internal ID14940156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96569785..96569804hg38UCSC Ensembl
Innerchr6:96569781..96569808hg38UCSC Ensembl
Outerchr6:96569762..96569827hg38UCSC Ensembl
chr6:97017661..97017680hg19UCSC Ensembl
Innerchr6:97017657..97017684hg19UCSC Ensembl
Outerchr6:97017638..97017703hg19UCSC Ensembl
chr6:97124382..97124401hg18UCSC Ensembl
Innerchr6:97124405..97124378hg18UCSC Ensembl
Outerchr6:97124359..97124424hg18UCSC Ensembl
Cytoband6q16.1
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 Variantsessv9629702, essv9629713
SamplesNA12814, NA11931
Known GenesFHL5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439889
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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