A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864610



Internal ID13317166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75479870..75479896hg38UCSC Ensembl
Innerchr6:75479829..75479937hg38UCSC Ensembl
Outerchr6:75479803..75479963hg38UCSC Ensembl
chr6:76189586..76189612hg19UCSC Ensembl
Innerchr6:76189545..76189653hg19UCSC Ensembl
Outerchr6:76189519..76189679hg19UCSC Ensembl
chr6:76246306..76246332hg18UCSC Ensembl
Innerchr6:76246373..76246265hg18UCSC Ensembl
Outerchr6:76246239..76246399hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385538
Supporting Variants
SamplesNA12005
Known GenesFILIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864610
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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