A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592569



Internal ID6979896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135042847..135045414hg38UCSC Ensembl
Innerchr2:135042871..135045390hg38UCSC Ensembl
Outerchr2:135042823..135045438hg38UCSC Ensembl
chr2:135800417..135802984hg19UCSC Ensembl
Innerchr2:135800441..135802960hg19UCSC Ensembl
Outerchr2:135800393..135803008hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg382568
hg192568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10682952, essv10682953
SamplesNA19020, HG02568
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592569
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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