A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653442



Internal ID13735762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:147991238..147991238hg38UCSC Ensembl
Innerchr6:147991237..147991239hg38UCSC Ensembl
Outerchr6:147991188..147991288hg38UCSC Ensembl
chr6:148312374..148312374hg19UCSC Ensembl
Innerchr6:148312373..148312375hg19UCSC Ensembl
Outerchr6:148312324..148312424hg19UCSC Ensembl
chr6:148354067..148354067hg18UCSC Ensembl
Innerchr6:148354068..148354066hg18UCSC Ensembl
Outerchr6:148354017..148354117hg18UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg381169
hg191169
hg181169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3377363
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653442
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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