A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694604



Internal ID14699265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149202496..149203994hg38UCSC Ensembl
Innerchr5:149202994..149203496hg38UCSC Ensembl
Outerchr5:149201496..149204994hg38UCSC Ensembl
chr5:148582059..148583557hg19UCSC Ensembl
Innerchr5:148582557..148583059hg19UCSC Ensembl
Outerchr5:148581059..148584557hg19UCSC Ensembl
chr5:148562252..148563750hg18UCSC Ensembl
Innerchr5:148563252..148562750hg18UCSC Ensembl
Outerchr5:148561252..148564750hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383212
Supporting Variants
SamplesNA19239
Known GenesABLIM3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694604
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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