A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8931058



Internal ID14513910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:78832374..78832416hg38UCSC Ensembl
Innerchr6:78832391..78832397hg38UCSC Ensembl
Outerchr6:78832351..78832439hg38UCSC Ensembl
chr6:79542091..79542133hg19UCSC Ensembl
Innerchr6:79542108..79542114hg19UCSC Ensembl
Outerchr6:79542068..79542156hg19UCSC Ensembl
chr6:79598810..79598852hg18UCSC Ensembl
Innerchr6:79598833..79598827hg18UCSC Ensembl
Outerchr6:79598787..79598875hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38258
hg19258
hg18258
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357308
Supporting Variants
SamplesNA18945
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8931058
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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