A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679028



Internal ID14761146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75027959..75027978hg38UCSC Ensembl
Innerchr5:75027955..75027982hg38UCSC Ensembl
Outerchr5:75027936..75028001hg38UCSC Ensembl
chr5:74323784..74323803hg19UCSC Ensembl
Innerchr5:74323780..74323807hg19UCSC Ensembl
Outerchr5:74323761..74323826hg19UCSC Ensembl
chr5:74359540..74359559hg18UCSC Ensembl
Innerchr5:74359563..74359536hg18UCSC Ensembl
Outerchr5:74359517..74359582hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3432407
Supporting Variants
SamplesNA19240
Known GenesGCNT4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679028
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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