A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394159



Internal ID14894438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7979365..7979389hg38UCSC Ensembl
Innerchr7:7979368..7979383hg38UCSC Ensembl
Outerchr7:7979344..7979410hg38UCSC Ensembl
chr7:8018996..8019020hg19UCSC Ensembl
Innerchr7:8018999..8019014hg19UCSC Ensembl
Outerchr7:8018975..8019041hg19UCSC Ensembl
chr7:7985521..7985545hg18UCSC Ensembl
Innerchr7:7985539..7985524hg18UCSC Ensembl
Outerchr7:7985500..7985566hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386009
hg196009
hg186009
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8934660, essv8934657, essv8934659, essv8934661, essv8934662
SamplesNA12043, NA11931, NA12763, NA12144, NA18522
Known GenesGLCCI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394159
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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