A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10840748



Internal ID2813354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213266798..213271412hg38UCSC Ensembl
Innerchr2:213266805..213271405hg38UCSC Ensembl
Outerchr2:213266791..213271419hg38UCSC Ensembl
chr2:214131522..214136136hg19UCSC Ensembl
Innerchr2:214131529..214136129hg19UCSC Ensembl
Outerchr2:214131515..214136143hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384615
hg194615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594229
Supporting Variants
SamplesHG02484
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10840748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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