A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677507



Internal ID9943612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:44344278..44344920hg38UCSC Ensembl
chr5:44344380..44345022hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6542102, essv5834886, essv5841262
SamplesNA18516, NA18907, NA19439
Known GenesFGF10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677507
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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