A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675576



Internal ID14667005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3051767..3051845hg38UCSC Ensembl
Innerchr4:3051792..3051817hg38UCSC Ensembl
Outerchr4:3051742..3051870hg38UCSC Ensembl
chr4:3053494..3053572hg19UCSC Ensembl
Innerchr4:3053519..3053544hg19UCSC Ensembl
Outerchr4:3053469..3053597hg19UCSC Ensembl
chr4:3023292..3023370hg18UCSC Ensembl
Innerchr4:3023317..3023342hg18UCSC Ensembl
Outerchr4:3023267..3023395hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3409747
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675576
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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