A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591513



Internal ID6631797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84452464..84456516hg38UCSC Ensembl
Innerchr2:84452501..84456479hg38UCSC Ensembl
Outerchr2:84452427..84456553hg38UCSC Ensembl
chr2:84679588..84683640hg19UCSC Ensembl
Innerchr2:84679625..84683603hg19UCSC Ensembl
Outerchr2:84679551..84683677hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10565652, essv10565651
SamplesNA19350, HG02820
Known GenesSUCLG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591513
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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