A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10253777



Internal ID255594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197008580..197058939hg38UCSC Ensembl
chr1:196977710..197028069hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3850360
hg1950360
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588490
Supporting Variants
SamplesHG02309
Known GenesCFHR5, F13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10253777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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