A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448877



Internal ID15295826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101752966..101752974hg38UCSC Ensembl
Innerchr8:101752960..101752978hg38UCSC Ensembl
Outerchr8:101752952..101752988hg38UCSC Ensembl
chr8:102765194..102765202hg19UCSC Ensembl
Innerchr8:102765188..102765206hg19UCSC Ensembl
Outerchr8:102765180..102765216hg19UCSC Ensembl
chr8:102834370..102834378hg18UCSC Ensembl
Innerchr8:102834382..102834364hg18UCSC Ensembl
Outerchr8:102834356..102834392hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676909, essv8676910
SamplesNA19238, NA19240
Known GenesNCALD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448877
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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