A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585184



Internal ID6625503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9660820..9673031hg38UCSC Ensembl
Innerchr1:9660850..9673001hg38UCSC Ensembl
Outerchr1:9660790..9673061hg38UCSC Ensembl
chr1:9720878..9733089hg19UCSC Ensembl
Innerchr1:9720908..9733059hg19UCSC Ensembl
Outerchr1:9720848..9733119hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3812212
hg1912212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9851314
SamplesHG01578
Known GenesPIK3CD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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