A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10600405



Internal ID602221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105862945..105866501hg38UCSC Ensembl
Innerchr2:105862945..105866501hg38UCSC Ensembl
Outerchr2:105862733..105866927hg38UCSC Ensembl
chr2:106479401..106482957hg19UCSC Ensembl
Innerchr2:106479401..106482957hg19UCSC Ensembl
Outerchr2:106479189..106483383hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383557
hg193557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591846
Supporting Variants
SamplesHG01565
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10600405
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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