A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10683482



Internal ID5391595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135447354..135475715hg38UCSC Ensembl
chr2:136204924..136233285hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3828362
hg1928362
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592578
Supporting Variants
SamplesNA18940
Known GenesZRANB3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10683482
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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