A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9851314



Internal ID6476607
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585184
Supporting Variants
SamplesHG01578
Known GenesPIK3CD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9851314
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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