A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10503627



Internal ID3187042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:51460392..51559057hg38UCSC Ensembl
chr2:51687530..51786195hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3898666
hg1998666
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590764
Supporting Variants
SamplesHG02804
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10503627
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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