A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687991



Internal ID14729420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1396757..1398355hg38UCSC Ensembl
Innerchr10:1397355..1397757hg38UCSC Ensembl
Outerchr10:1395757..1399355hg38UCSC Ensembl
chr10:1438952..1440550hg19UCSC Ensembl
Innerchr10:1439550..1439952hg19UCSC Ensembl
Outerchr10:1437952..1441550hg19UCSC Ensembl
chr10:1428952..1430550hg18UCSC Ensembl
Innerchr10:1429952..1429550hg18UCSC Ensembl
Outerchr10:1427952..1431550hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3378006
Supporting Variants
SamplesNA19240
Known GenesADARB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687991
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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