A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10682952



Internal ID2894928
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592569
Supporting Variants
SamplesHG02568
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10682952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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