A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9850264



Internal ID6683450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9519060..9522361hg38UCSC Ensembl
Innerchr1:9519113..9522308hg38UCSC Ensembl
Outerchr1:9519007..9522414hg38UCSC Ensembl
chr1:9579119..9582420hg19UCSC Ensembl
Innerchr1:9579172..9582367hg19UCSC Ensembl
Outerchr1:9579066..9582473hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383302
hg193302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585176
Supporting Variants
SamplesNA20814
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9850264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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