A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10738331



Internal ID740147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161423656..161435974hg38UCSC Ensembl
chr2:162280167..162292485hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3812319
hg1912319
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593156
Supporting Variants
SamplesHG02727
Known GenesTBR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10738331
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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