A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669104



Internal ID9935209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:77570747..77576255hg38UCSC Ensembl
chr4:78491901..78497409hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg385509
hg195509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6356465, essv6494824, essv5830194, essv6390001, essv5437708, essv5790529, essv5609306
SamplesNA19701, NA19373, NA18498, NA19235, NA19452, NA19395, NA19438
Known GenesCXCL13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669104
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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