A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10850506



Internal ID4102222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218368469..218373257hg38UCSC Ensembl
Innerchr2:218368619..218373107hg38UCSC Ensembl
Outerchr2:218368319..218373407hg38UCSC Ensembl
chr2:219233192..219237980hg19UCSC Ensembl
Innerchr2:219233342..219237830hg19UCSC Ensembl
Outerchr2:219233042..219238130hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384789
hg194789
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594337
Supporting Variants
SamplesHG03727
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10850506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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