A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695323



Internal ID14745954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57924315..57927113hg38UCSC Ensembl
Innerchr6:57925315..57926113hg38UCSC Ensembl
Outerchr6:57923315..57928113hg38UCSC Ensembl
chr6:58250593..58253391hg19UCSC Ensembl
Innerchr6:58251593..58252391hg19UCSC Ensembl
Outerchr6:58249593..58254391hg19UCSC Ensembl
chr6:58358552..58361350hg18UCSC Ensembl
Innerchr6:58359552..58360350hg18UCSC Ensembl
Outerchr6:58357552..58362350hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411255
Supporting Variants
SamplesNA19240
Known GenesGUSBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695323
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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