A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590536



Internal ID6977865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43655280..43725404hg38UCSC Ensembl
chr2:43882419..43952543hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3870125
hg1970125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481835
SamplesHG02715
Known GenesLOC728819, PLEKHH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590536
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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