A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10532383



Internal ID534199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66638640..66649195hg38UCSC Ensembl
chr2:66865772..66876327hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3810556
hg1910556
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591126
Supporting Variants
SamplesHG02594
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10532383
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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