A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10641103



Internal ID6668550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120300846..120310123hg38UCSC Ensembl
Innerchr2:120301346..120309623hg38UCSC Ensembl
Outerchr2:120299846..120311123hg38UCSC Ensembl
chr2:121058422..121067699hg19UCSC Ensembl
Innerchr2:121058922..121067199hg19UCSC Ensembl
Outerchr2:121057422..121068699hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389278
hg199278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592176
Supporting Variants
SamplesNA20809
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10641103
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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