A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253406



Internal ID5785867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196850486..196901215hg38UCSC Ensembl
chr1:196819616..196870345hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3850730
hg1950730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588479
Supporting Variants
SamplesNA19149
Known GenesCFHR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253406
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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