A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343005



Internal ID14843273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:30030700..30030710hg38UCSC Ensembl
Innerchr6:30030696..30030712hg38UCSC Ensembl
Outerchr6:30030686..30030722hg38UCSC Ensembl
chr6:29998477..29998487hg19UCSC Ensembl
Innerchr6:29998473..29998489hg19UCSC Ensembl
Outerchr6:29998463..29998499hg19UCSC Ensembl
chr6:30106456..30106466hg18UCSC Ensembl
Innerchr6:30106468..30106452hg18UCSC Ensembl
Outerchr6:30106442..30106478hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676372, essv8676373, essv8676374
SamplesNA19238, NA12891, NA12878
Known GenesZNRD1-AS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343005
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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