A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9622714



Internal ID14912370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68646536..68646555hg38UCSC Ensembl
Innerchr5:68646532..68646559hg38UCSC Ensembl
Outerchr5:68646513..68646578hg38UCSC Ensembl
chr5:67942363..67942382hg19UCSC Ensembl
Innerchr5:67942359..67942386hg19UCSC Ensembl
Outerchr5:67942340..67942405hg19UCSC Ensembl
chr5:67978119..67978138hg18UCSC Ensembl
Innerchr5:67978142..67978115hg18UCSC Ensembl
Outerchr5:67978096..67978161hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451400
Supporting Variants
SamplesNA19143
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9622714
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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