A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695254



Internal ID14705249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32013397..32016795hg38UCSC Ensembl
Innerchr6:32014397..32015795hg38UCSC Ensembl
Outerchr6:32012397..32017795hg38UCSC Ensembl
chr6:31981174..31984572hg19UCSC Ensembl
Innerchr6:31982174..31983572hg19UCSC Ensembl
Outerchr6:31980174..31985572hg19UCSC Ensembl
chr6:32089152..32092550hg18UCSC Ensembl
Innerchr6:32090152..32091550hg18UCSC Ensembl
Outerchr6:32088152..32093550hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg383399
hg193399
hg183399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446536
Supporting Variants
SamplesNA19239
Known GenesC4A, C4B, C4B_2, STK19
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695254
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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