A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10711174



Internal ID5945728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:151812157..151840483hg38UCSC Ensembl
chr2:152668671..152696997hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3828327
hg1928327
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592924
Supporting Variants
SamplesNA19355
Known GenesARL5A, CACNB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10711174
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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