A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695223



Internal ID14705081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3013419..3015917hg38UCSC Ensembl
Innerchr6:3014419..3014917hg38UCSC Ensembl
Outerchr6:3012419..3016917hg38UCSC Ensembl
chr6:3013653..3016151hg19UCSC Ensembl
Innerchr6:3014653..3015151hg19UCSC Ensembl
Outerchr6:3012653..3017151hg19UCSC Ensembl
chr6:2958652..2961150hg18UCSC Ensembl
Innerchr6:2959652..2960150hg18UCSC Ensembl
Outerchr6:2957652..2962150hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426962
Supporting Variants
SamplesNA19239
Known GenesNQO2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695223
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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