A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10517230



Internal ID4004532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57235471..57372497hg38UCSC Ensembl
chr2:57462606..57599632hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38137027
hg19137027
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590921
Supporting Variants
SamplesHG03653
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10517230
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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