A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3376819



Internal ID14877084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42719837..42719853hg38UCSC Ensembl
Innerchr5:42719839..42719849hg38UCSC Ensembl
Outerchr5:42719825..42719865hg38UCSC Ensembl
chr5:42719939..42719955hg19UCSC Ensembl
Innerchr5:42719941..42719951hg19UCSC Ensembl
Outerchr5:42719927..42719967hg19UCSC Ensembl
chr5:42755696..42755712hg18UCSC Ensembl
Innerchr5:42755708..42755698hg18UCSC Ensembl
Outerchr5:42755684..42755724hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38259
hg19259
hg18259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924248, essv8924243, essv8924240, essv8924245, essv8924242, essv8924246, essv8924241, essv8924238, essv8924244, essv8924239
SamplesNA18561, NA18545, NA18940, NA18558, NA18605, NA18566, NA18570, NA18593, NA18961, NA18943
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3376819
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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