A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6273927



Internal ID9251330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230091354..230092603hg38UCSC Ensembl
Outerchr1:230091317..230092653hg38UCSC Ensembl
Innerchr1:230227101..230228350hg19UCSC Ensembl
Outerchr1:230227064..230228400hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381337
hg191337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668920
Supporting Variants
SamplesNA18605
Known GenesGALNT2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6273927
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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