A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591594



Internal ID6631878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88694856..88697188hg38UCSC Ensembl
Innerchr2:88694906..88697138hg38UCSC Ensembl
Outerchr2:88694806..88697238hg38UCSC Ensembl
chr2:88994374..88996706hg19UCSC Ensembl
Innerchr2:88994424..88996656hg19UCSC Ensembl
Outerchr2:88994324..88996756hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382333
hg192333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10574520
SamplesNA18550
Known GenesRPIA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591594
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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