A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9628646



Internal ID12846318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70249164..70249183hg38UCSC Ensembl
Innerchr6:70249160..70249187hg38UCSC Ensembl
Outerchr6:70249141..70249206hg38UCSC Ensembl
chr6:70958867..70958886hg19UCSC Ensembl
Innerchr6:70958863..70958890hg19UCSC Ensembl
Outerchr6:70958844..70958909hg19UCSC Ensembl
chr6:71015588..71015607hg18UCSC Ensembl
Innerchr6:71015611..71015584hg18UCSC Ensembl
Outerchr6:71015565..71015630hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409895
Supporting Variants
SamplesNA11918
Known GenesCOL9A1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9628646
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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