A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687994



Internal ID14692739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1616357..1617855hg38UCSC Ensembl
Innerchr10:1616855..1617357hg38UCSC Ensembl
Outerchr10:1615357..1618855hg38UCSC Ensembl
chr10:1658552..1660050hg19UCSC Ensembl
Innerchr10:1659050..1659552hg19UCSC Ensembl
Outerchr10:1657552..1661050hg19UCSC Ensembl
chr10:1648552..1650050hg18UCSC Ensembl
Innerchr10:1649552..1649050hg18UCSC Ensembl
Outerchr10:1647552..1651050hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3432601
Supporting Variants
SamplesNA19239
Known GenesADARB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687994
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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