A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11281665



Internal ID1283481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193280993..193291619hg38UCSC Ensembl
Innerchr3:193281001..193291612hg38UCSC Ensembl
Outerchr3:193280986..193291627hg38UCSC Ensembl
chr3:192998782..193009408hg19UCSC Ensembl
Innerchr3:192998790..193009401hg19UCSC Ensembl
Outerchr3:192998775..193009416hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3810627
hg1910627
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599183
Supporting Variants
SamplesNA18558
Known GenesATP13A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11281665
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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