A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10466359



Internal ID5444352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36592937..36596001hg38UCSC Ensembl
Innerchr2:36592937..36596001hg38UCSC Ensembl
Outerchr2:36592437..36596501hg38UCSC Ensembl
chr2:36820080..36823144hg19UCSC Ensembl
Innerchr2:36820080..36823144hg19UCSC Ensembl
Outerchr2:36819580..36823644hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg383065
hg193065
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590395
Supporting Variants
SamplesNA18962
Known GenesFEZ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10466359
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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