A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431836



Internal ID15278792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643153..78643161hg38UCSC Ensembl
Innerchr1:78643145..78643167hg38UCSC Ensembl
Outerchr1:78643137..78643177hg38UCSC Ensembl
chr1:79108838..79108846hg19UCSC Ensembl
Innerchr1:79108830..79108852hg19UCSC Ensembl
Outerchr1:79108822..79108862hg19UCSC Ensembl
chr1:78881426..78881434hg18UCSC Ensembl
Innerchr1:78881440..78881418hg18UCSC Ensembl
Outerchr1:78881410..78881450hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38101
hg19101
hg18101
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674110, essv8674108, essv8674111
SamplesNA12891, NA12878, NA12892
Known GenesIFI44L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431836
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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