A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10815842



Internal ID3493745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197664639..197670292hg38UCSC Ensembl
Innerchr2:197664655..197670277hg38UCSC Ensembl
Outerchr2:197664624..197670308hg38UCSC Ensembl
chr2:198529363..198535016hg19UCSC Ensembl
Innerchr2:198529379..198535001hg19UCSC Ensembl
Outerchr2:198529348..198535032hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg385654
hg195654
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593909
Supporting Variants
SamplesHG03103
Known GenesRFTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10815842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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