A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679095



Internal ID13670461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146566137..146566156hg38UCSC Ensembl
Innerchr6:146566133..146566160hg38UCSC Ensembl
Outerchr6:146566114..146566179hg38UCSC Ensembl
chr6:146887273..146887292hg19UCSC Ensembl
Innerchr6:146887269..146887296hg19UCSC Ensembl
Outerchr6:146887250..146887315hg19UCSC Ensembl
chr6:146928966..146928985hg18UCSC Ensembl
Innerchr6:146928989..146928962hg18UCSC Ensembl
Outerchr6:146928943..146929008hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3338153
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679095
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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