A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10506578



Internal ID1928877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52942681..53060525hg38UCSC Ensembl
Innerchr2:52942716..53060491hg38UCSC Ensembl
Outerchr2:52942647..53060560hg38UCSC Ensembl
chr2:53169819..53287663hg19UCSC Ensembl
Innerchr2:53169854..53287629hg19UCSC Ensembl
Outerchr2:53169785..53287698hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38117845
hg19117845
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590806
Supporting Variants
SamplesHG01799
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10506578
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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