A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv72e214



Internal ID22755966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196987015..197011691hg38UCSC Ensembl
chr1:196956145..196980821hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3824677
hg1924677
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3588487, esv3588489
SamplesHG02870, NA19443, NA19200, NA19908, HG02449
Known GenesCFHR5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv72e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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