A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676788



Internal ID9596207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196987291..197007782hg38UCSC Ensembl
Outerchr1:196987254..197007832hg38UCSC Ensembl
Innerchr1:196956421..196976912hg19UCSC Ensembl
Outerchr1:196956384..196976962hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3820579
hg1920579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6513178, essv6182044
SamplesNA19443, NA19908
Known GenesCFHR5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676788
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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