A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079287



Internal ID3273936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114471591..114473308hg38UCSC Ensembl
Innerchr1:114471641..114473258hg38UCSC Ensembl
Outerchr1:114471539..114473360hg38UCSC Ensembl
chr1:115014213..115015930hg19UCSC Ensembl
Innerchr1:115014263..115015880hg19UCSC Ensembl
Outerchr1:115014161..115015982hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381718
hg191718
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587264
Supporting Variants
SamplesHG02888
Known GenesTRIM33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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