A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304309



Internal ID14804571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75358137..75358138hg38UCSC Ensembl
Innerchr5:75358118..75358157hg38UCSC Ensembl
Outerchr5:75358117..75358158hg38UCSC Ensembl
chr5:74653962..74653963hg19UCSC Ensembl
Innerchr5:74653943..74653982hg19UCSC Ensembl
Outerchr5:74653942..74653983hg19UCSC Ensembl
chr5:74689718..74689719hg18UCSC Ensembl
Innerchr5:74689738..74689699hg18UCSC Ensembl
Outerchr5:74689698..74689739hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7771493, essv7812087, essv7829760, essv7812688, essv7826480, essv7836510, essv7779748, essv7784498
SamplesNA18510, NA18498, NA18520, NA18907, NA18499, NA19143, NA18501, NA18505
Known GenesHMGCR
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304309
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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