A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10506580



Internal ID4029356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52945677..53063089hg38UCSC Ensembl
chr2:53172815..53290227hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38117413
hg19117413
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590807
Supporting Variants
SamplesHG03681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10506580
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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