A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657291



Internal ID9923396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177098012..177102222hg38UCSC Ensembl
chr5:176525013..176529223hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg384211
hg194211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6445221, essv5731608, essv6521828, essv6446910, essv5987886, essv5632641, essv5689170, essv5878817, essv5494137
SamplesNA18486, NA19819, NA19443, NA19448, NA19172, NA18909, NA19435, NA19470, NA19474
Known GenesFGFR4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657291
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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