A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662265



Internal ID9928370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65972197..65974138hg38UCSC Ensembl
chr5:65268025..65269966hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg381942
hg191942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6442728, essv5762455, essv5885695, essv6014753, essv5652456, essv5740022, essv5933875, essv6009802, essv5400237
SamplesHG01366, NA19901, NA18908, NA19390, NA19835, NA19439, HG01108, NA19213, HG01437
Known GenesERBB2IP
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662265
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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