A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669425



Internal ID9935530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196808196..196933087hg38UCSC Ensembl
chr1:196777326..196902217hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124892
hg19124892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e199
Supporting Variantsessv5703796, essv5757768, essv5705787, essv6580210, essv5620080, essv6179798, essv5487028, essv5622752, essv6147631
SamplesHG00650, NA18602, NA18618, HG00683, NA19456, HG01124, HG00533, HG00651, HG00258
Known GenesCFHR1, CFHR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669425
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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