A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864576



Internal ID13317122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:39111386..39111402hg38UCSC Ensembl
Innerchr6:39111358..39111430hg38UCSC Ensembl
Outerchr6:39111342..39111446hg38UCSC Ensembl
chr6:39079162..39079178hg19UCSC Ensembl
Innerchr6:39079134..39079206hg19UCSC Ensembl
Outerchr6:39079118..39079222hg19UCSC Ensembl
chr6:39187140..39187156hg18UCSC Ensembl
Innerchr6:39187184..39187112hg18UCSC Ensembl
Outerchr6:39187096..39187200hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378714
Supporting Variants
SamplesNA12005
Known GenesSAYSD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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