A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7744143



Internal ID13504276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154585438..154585439hg38UCSC Ensembl
Innerchr4:154585404..154585473hg38UCSC Ensembl
Outerchr4:154585403..154585474hg38UCSC Ensembl
chr4:155506590..155506591hg19UCSC Ensembl
Innerchr4:155506556..155506625hg19UCSC Ensembl
Outerchr4:155506555..155506626hg19UCSC Ensembl
chr4:155726040..155726041hg18UCSC Ensembl
Innerchr4:155726075..155726006hg18UCSC Ensembl
Outerchr4:155726005..155726076hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304006
Supporting Variants
SamplesNA18510
Known GenesFGA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7744143
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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