A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7748201



Internal ID13721402
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 StatusS
Merged Variantsesv3306579
Supporting Variants
SamplesNA18558
Known GenesGHR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7748201
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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