A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687904



Internal ID14729246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:1231812..1233108hg38UCSC Ensembl
Innerchr10:1232110..1232810hg38UCSC Ensembl
Outerchr10:1230812..1234110hg38UCSC Ensembl
chr10:1277752..1279050hg19UCSC Ensembl
Innerchr10:1278050..1278752hg19UCSC Ensembl
Outerchr10:1276752..1280050hg19UCSC Ensembl
chr10:1267752..1269050hg18UCSC Ensembl
Innerchr10:1268752..1268050hg18UCSC Ensembl
Outerchr10:1266752..1270050hg18UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381297
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426119
Supporting Variants
SamplesNA19240
Known GenesADARB2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687904
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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