A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9595035



Internal ID13451291
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 StatusS
Merged Variantsesv3386975
Supporting Variants
SamplesNA12287
Known GenesIFI44L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9595035
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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