A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694589



Internal ID14699131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141863903..141865401hg38UCSC Ensembl
Innerchr5:141864401..141864903hg38UCSC Ensembl
Outerchr5:141862903..141866401hg38UCSC Ensembl
chr5:141243468..141244966hg19UCSC Ensembl
Innerchr5:141243966..141244468hg19UCSC Ensembl
Outerchr5:141242468..141245966hg19UCSC Ensembl
chr5:141223652..141225150hg18UCSC Ensembl
Innerchr5:141224652..141224150hg18UCSC Ensembl
Outerchr5:141222652..141226150hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369680
Supporting Variants
SamplesNA19239
Known GenesPCDH1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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