A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10632463



Internal ID634279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113650431..113744360hg38UCSC Ensembl
chr2:114408008..114501937hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3893930
hg1993930
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592028
Supporting Variants
SamplesHG03644
Known GenesMIR4782, SLC35F5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10632463
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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