A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669850



Internal ID9935955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119075694..119076013hg38UCSC Ensembl
chr12:119513499..119513818hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6053523, essv6546880
SamplesNA19359, NA19318
Known GenesSRRM4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669850
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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