A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431404



Internal ID15278360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60567703..60567767hg38UCSC Ensembl
Innerchr8:60567686..60567781hg38UCSC Ensembl
Outerchr8:60567622..60567848hg38UCSC Ensembl
chr8:61480262..61480326hg19UCSC Ensembl
Innerchr8:61480245..61480340hg19UCSC Ensembl
Outerchr8:61480181..61480407hg19UCSC Ensembl
chr8:61642816..61642880hg18UCSC Ensembl
Innerchr8:61642894..61642799hg18UCSC Ensembl
Outerchr8:61642735..61642961hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381248
hg191248
hg181248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8677140, essv8677139
SamplesNA19239, NA19240
Known GenesRAB2A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431404
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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