A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591230



Internal ID6631514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71457775..71458754hg38UCSC Ensembl
Innerchr2:71457777..71458753hg38UCSC Ensembl
Outerchr2:71457774..71458756hg38UCSC Ensembl
chr2:71684905..71685884hg19UCSC Ensembl
Innerchr2:71684907..71685883hg19UCSC Ensembl
Outerchr2:71684904..71685886hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38980
hg19980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10538275, essv10538277, essv10538276
SamplesNA21119, HG04140, NA21133
Known GenesDYSF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591230
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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