A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679060



Internal ID15108018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112074316..112074335hg38UCSC Ensembl
Innerchr6:112074312..112074339hg38UCSC Ensembl
Outerchr6:112074293..112074358hg38UCSC Ensembl
chr6:112395519..112395538hg19UCSC Ensembl
Innerchr6:112395515..112395542hg19UCSC Ensembl
Outerchr6:112395496..112395561hg19UCSC Ensembl
chr6:112502212..112502231hg18UCSC Ensembl
Innerchr6:112502235..112502208hg18UCSC Ensembl
Outerchr6:112502189..112502254hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366325
Supporting Variants
SamplesNA19240
Known GenesTUBE1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679060
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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