A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10404287



Internal ID406103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9082924..9263401hg38UCSC Ensembl
chr2:9223053..9403530hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38180478
hg19180478
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589765
Supporting Variants
SamplesNA18941
Known GenesASAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10404287
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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