A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8929721



Internal ID14862713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:54849745..54849756hg38UCSC Ensembl
Innerchr6:54849735..54849763hg38UCSC Ensembl
Outerchr6:54849724..54849774hg38UCSC Ensembl
chr6:54714543..54714554hg19UCSC Ensembl
Innerchr6:54714533..54714561hg19UCSC Ensembl
Outerchr6:54714522..54714572hg19UCSC Ensembl
chr6:54822502..54822513hg18UCSC Ensembl
Innerchr6:54822520..54822492hg18UCSC Ensembl
Outerchr6:54822481..54822531hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343164
Supporting Variants
SamplesNA19114
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8929721
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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