A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6249360



Internal ID9226763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124311270..124311390hg38UCSC Ensembl
chr12:124795816..124795936hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2669580
Supporting Variants
SamplesNA18923
Known GenesFAM101A, ZNF664-FAM101A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6249360
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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