A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10819963



Internal ID621908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200484354..200485521hg38UCSC Ensembl
Innerchr2:200484389..200485487hg38UCSC Ensembl
Outerchr2:200484320..200485556hg38UCSC Ensembl
chr2:201349077..201350244hg19UCSC Ensembl
Innerchr2:201349112..201350210hg19UCSC Ensembl
Outerchr2:201349043..201350279hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593959
Supporting Variants
SamplesHG00272
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10819963
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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