A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10168397



Internal ID3285191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161518654..161550169hg38UCSC Ensembl
chr1:161488444..161519959hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3831516
hg1931516
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587730
Supporting Variants
SamplesHG02896
Known GenesFCGR2A, FCGR3A, HSPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10168397
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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