A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864632



Internal ID13317196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108355116..108355118hg38UCSC Ensembl
Innerchr6:108355116..108355118hg38UCSC Ensembl
Outerchr6:108355114..108355120hg38UCSC Ensembl
chr6:108676320..108676322hg19UCSC Ensembl
Innerchr6:108676320..108676322hg19UCSC Ensembl
Outerchr6:108676318..108676324hg19UCSC Ensembl
chr6:108783013..108783015hg18UCSC Ensembl
Innerchr6:108783015..108783013hg18UCSC Ensembl
Outerchr6:108783011..108783017hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3435603
Supporting Variants
SamplesNA12005
Known GenesLACE1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864632
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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