A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10818287



Internal ID820103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199356377..199357875hg38UCSC Ensembl
Innerchr2:199356392..199357860hg38UCSC Ensembl
Outerchr2:199356362..199357890hg38UCSC Ensembl
chr2:200221100..200222598hg19UCSC Ensembl
Innerchr2:200221115..200222583hg19UCSC Ensembl
Outerchr2:200221085..200222613hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381499
hg191499
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593943
Supporting Variants
SamplesNA19019
Known GenesSATB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10818287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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