A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6441424



Internal ID9670083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8652318..8654814hg38UCSC Ensembl
chr12:8804914..8807410hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382497
hg192497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667162
Supporting Variants
SamplesNA19399
Known GenesMFAP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6441424
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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