A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7288912



Internal ID10567194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764870..196800870hg38UCSC Ensembl
Innerchr1:196734000..196770000hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3836001
hg1936001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3019345
Supporting Variants
SamplesHuRef
Known GenesCFHR3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7288912
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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