A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10790933



Internal ID2927258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:186140660..186172389hg38UCSC Ensembl
chr2:187005387..187037116hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3831730
hg1931730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593661
Supporting Variants
SamplesHG02588
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10790933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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