A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14471295



Internal ID3253869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45752185..45753383hg38UCSC Ensembl
Innerchr12:45752239..45753329hg38UCSC Ensembl
Outerchr12:45752131..45753437hg38UCSC Ensembl
chr12:46145968..46147166hg19UCSC Ensembl
Innerchr12:46146022..46147112hg19UCSC Ensembl
Outerchr12:46145914..46147220hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629391
Supporting Variants
SamplesHG02878
Known GenesARID2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14471295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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