A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397702



Internal ID14897979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78802091..78802110hg38UCSC Ensembl
Innerchr5:78802087..78802114hg38UCSC Ensembl
Outerchr5:78802068..78802133hg38UCSC Ensembl
chr5:78097914..78097933hg19UCSC Ensembl
Innerchr5:78097910..78097937hg19UCSC Ensembl
Outerchr5:78097891..78097956hg19UCSC Ensembl
chr5:78133670..78133689hg18UCSC Ensembl
Innerchr5:78133693..78133666hg18UCSC Ensembl
Outerchr5:78133647..78133712hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679031
SamplesNA19240
Known GenesARSB
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397702
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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