A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10493413



Internal ID3950405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48610676..48623941hg38UCSC Ensembl
chr2:48837815..48851080hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3813266
hg1913266
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590655
Supporting Variants
SamplesHG03603
Known GenesGTF2A1L, STON1-GTF2A1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10493413
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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