A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687905



Internal ID14691915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1232012..1233208hg38UCSC Ensembl
Innerchr10:1232210..1233010hg38UCSC Ensembl
Outerchr10:1231012..1234210hg38UCSC Ensembl
chr10:1277952..1279150hg19UCSC Ensembl
Innerchr10:1278150..1278952hg19UCSC Ensembl
Outerchr10:1276952..1280150hg19UCSC Ensembl
chr10:1267952..1269150hg18UCSC Ensembl
Innerchr10:1268952..1268150hg18UCSC Ensembl
Outerchr10:1266952..1270150hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381197
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3331395
Supporting Variants
SamplesNA19239
Known GenesADARB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687905
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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