A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669417



Internal ID9935522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77707051..77707796hg38UCSC Ensembl
chr5:77002876..77003621hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5489740, essv5962528, essv5495285, essv5589332, essv6370936, essv5423993, essv5590734, essv6051968, essv5418777, essv6036430
SamplesNA18627, HG00448, NA19088, NA18557, NA18985, NA19056, NA18579, HG00479, HG00525, NA18953
Known GenesTBCA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669417
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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