A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10695747



Internal ID461720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144447625..144481219hg38UCSC Ensembl
chr2:145205192..145238786hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3833595
hg1933595
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592769
Supporting Variants
SamplesHG00146
Known GenesZEB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10695747
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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