A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10872822



Internal ID3570013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229426548..229511062hg38UCSC Ensembl
chr2:230291264..230375778hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3884515
hg1984515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594575
Supporting Variants
SamplesHG03160
Known GenesDNER
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10872822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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