A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306579



Internal ID14806841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42719843..42719844hg38UCSC Ensembl
Innerchr5:42719814..42719873hg38UCSC Ensembl
Outerchr5:42719813..42719874hg38UCSC Ensembl
chr5:42719945..42719946hg19UCSC Ensembl
Innerchr5:42719916..42719975hg19UCSC Ensembl
Outerchr5:42719915..42719976hg19UCSC Ensembl
chr5:42755702..42755703hg18UCSC Ensembl
Innerchr5:42755732..42755673hg18UCSC Ensembl
Outerchr5:42755672..42755733hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3876
hg1976
hg1876
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7751653, essv7748201, essv7761217, essv7757427, essv7759426, essv7743589, essv7755290, essv7745083, essv7747312, essv7760783
SamplesNA18605, NA18561, NA18570, NA18545, NA18943, NA18566, NA18593, NA18558, NA18961, NA18940
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306579
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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