A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390942



Internal ID14891223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57924315..57929413hg38UCSC Ensembl
Innerchr6:57925315..57928413hg38UCSC Ensembl
Outerchr6:57923315..57930413hg38UCSC Ensembl
chr6:58250593..58255691hg19UCSC Ensembl
Innerchr6:58251593..58254691hg19UCSC Ensembl
Outerchr6:58249593..58256691hg19UCSC Ensembl
chr6:58358552..58363650hg18UCSC Ensembl
Innerchr6:58359552..58362650hg18UCSC Ensembl
Outerchr6:58357552..58364650hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg385099
hg195099
hg185099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3531e59
Supporting Variantsessv8695324
SamplesNA12878
Known GenesGUSBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390942
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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