A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589392



Internal ID6629681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243497359..243497915hg38UCSC Ensembl
Innerchr1:243497409..243497865hg38UCSC Ensembl
Outerchr1:243497309..243497965hg38UCSC Ensembl
chr1:243660661..243661217hg19UCSC Ensembl
Innerchr1:243660711..243661167hg19UCSC Ensembl
Outerchr1:243660611..243661267hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10358363, essv10358362
SamplesNA19712, NA19440
Known GenesAKT3, SDCCAG8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589392
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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