A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837554



Internal ID14735323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3051794..3051795hg38UCSC Ensembl
Innerchr4:3051720..3051869hg38UCSC Ensembl
Outerchr4:3051719..3051870hg38UCSC Ensembl
chr4:3053521..3053522hg19UCSC Ensembl
Innerchr4:3053447..3053596hg19UCSC Ensembl
Outerchr4:3053446..3053597hg19UCSC Ensembl
chr4:3023319..3023320hg18UCSC Ensembl
Innerchr4:3023394..3023245hg18UCSC Ensembl
Outerchr4:3023244..3023395hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38118
hg19118
hg18118
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309157
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837554
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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