A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588615



Internal ID6628906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204213843..204234161hg38UCSC Ensembl
chr1:204182971..204203289hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3820319
hg1920319
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266770
SamplesHG00406
Known GenesGOLT1A, PLEKHA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588615
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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