A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386975



Internal ID15233944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643134..78643153hg38UCSC Ensembl
Innerchr1:78643130..78643157hg38UCSC Ensembl
Outerchr1:78643111..78643176hg38UCSC Ensembl
chr1:79108819..79108838hg19UCSC Ensembl
Innerchr1:79108815..79108842hg19UCSC Ensembl
Outerchr1:79108796..79108861hg19UCSC Ensembl
chr1:78881407..78881426hg18UCSC Ensembl
Innerchr1:78881430..78881403hg18UCSC Ensembl
Outerchr1:78881384..78881449hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9595035
SamplesNA12287
Known GenesIFI44L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386975
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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