A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6214327



Internal ID9612194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196764486..196844542hg38UCSC Ensembl
Outerchr1:196764115..196844912hg38UCSC Ensembl
Innerchr1:196733616..196813672hg19UCSC Ensembl
Outerchr1:196733245..196814042hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3880798
hg1980798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672010
Supporting Variants
SamplesNA19313
Known GenesCFHR1, CFHR3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6214327
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer