A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305706



Internal ID15152654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68895216..68895217hg38UCSC Ensembl
Innerchr5:68895199..68895234hg38UCSC Ensembl
Outerchr5:68895198..68895235hg38UCSC Ensembl
chr5:68191043..68191044hg19UCSC Ensembl
Innerchr5:68191026..68191061hg19UCSC Ensembl
Outerchr5:68191025..68191062hg19UCSC Ensembl
chr5:68226799..68226800hg18UCSC Ensembl
Innerchr5:68226817..68226782hg18UCSC Ensembl
Outerchr5:68226781..68226818hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7817136, essv7791874, essv7823086, essv7829795, essv7778485, essv7804266, essv7791391, essv7789524, essv7816089, essv7779607
SamplesNA18519, NA18907, NA18853, NA18523, NA19108, NA18517, NA19143, NA19116, NA18511, NA18522
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305706
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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