A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8675614



Internal ID15084596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55586968..55586982hg38UCSC Ensembl
Innerchr4:55586961..55586986hg38UCSC Ensembl
Outerchr4:55586947..55587003hg38UCSC Ensembl
chr4:56453135..56453149hg19UCSC Ensembl
Innerchr4:56453128..56453153hg19UCSC Ensembl
Outerchr4:56453114..56453170hg19UCSC Ensembl
chr4:56147892..56147906hg18UCSC Ensembl
Innerchr4:56147910..56147885hg18UCSC Ensembl
Outerchr4:56147871..56147927hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445578
Supporting Variants
SamplesNA19240
Known GenesPDCL2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8675614
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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