A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10515285



Internal ID2778665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57005015..57249766hg38UCSC Ensembl
chr2:57232150..57476901hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38244752
hg19244752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590904
Supporting Variants
SamplesHG02450
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10515285
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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