A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9627014



Internal ID14911370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38527792..38527811hg38UCSC Ensembl
Innerchr6:38527788..38527815hg38UCSC Ensembl
Outerchr6:38527769..38527834hg38UCSC Ensembl
chr6:38495568..38495587hg19UCSC Ensembl
Innerchr6:38495564..38495591hg19UCSC Ensembl
Outerchr6:38495545..38495610hg19UCSC Ensembl
chr6:38603546..38603565hg18UCSC Ensembl
Innerchr6:38603569..38603542hg18UCSC Ensembl
Outerchr6:38603523..38603588hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3384695
Supporting Variants
SamplesNA19141
Known GenesBTBD9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9627014
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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