A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8921845



Internal ID14043821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:154585428..154585454hg38UCSC Ensembl
Innerchr4:154585438..154585442hg38UCSC Ensembl
Outerchr4:154585414..154585468hg38UCSC Ensembl
chr4:155506580..155506606hg19UCSC Ensembl
Innerchr4:155506590..155506594hg19UCSC Ensembl
Outerchr4:155506566..155506620hg19UCSC Ensembl
chr4:155726030..155726056hg18UCSC Ensembl
Innerchr4:155726044..155726040hg18UCSC Ensembl
Outerchr4:155726016..155726070hg18UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451661
Supporting Variants
SamplesNA18870
Known GenesFGA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8921845
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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