A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10494718



Internal ID362628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48815408..48843022hg38UCSC Ensembl
chr2:49042547..49070161hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3827615
hg1927615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590663
Supporting Variants
SamplesHG00102
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10494718
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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