A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10507933



Internal ID3569871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53616664..53619497hg38UCSC Ensembl
Innerchr2:53616666..53619495hg38UCSC Ensembl
Outerchr2:53616662..53619499hg38UCSC Ensembl
chr2:53843801..53846634hg19UCSC Ensembl
Innerchr2:53843803..53846632hg19UCSC Ensembl
Outerchr2:53843799..53846636hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg382834
hg192834
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590827
Supporting Variants
SamplesHG03160
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10507933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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