A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10211054



Internal ID212870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184845562..185005734hg38UCSC Ensembl
chr1:184814696..184974866hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38160173
hg19160171
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588129
Supporting Variants
SamplesHG02379
Known GenesFAM129A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10211054
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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