A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517319



Internal ID4747690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57294350..57429515hg38UCSC Ensembl
chr2:57521485..57656650hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38135166
hg19135166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590928
Supporting Variants
SamplesNA07347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517319
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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