A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10850882



Internal ID5226620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218656639..218658661hg38UCSC Ensembl
Innerchr2:218656639..218658661hg38UCSC Ensembl
Outerchr2:218656399..218658985hg38UCSC Ensembl
chr2:219521362..219523384hg19UCSC Ensembl
Innerchr2:219521362..219523384hg19UCSC Ensembl
Outerchr2:219521122..219523708hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382023
hg192023
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594347
Supporting Variants
SamplesNA18624
Known GenesZNF142
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10850882
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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