A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6125517



Internal ID9102920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27294433..27295600hg38UCSC Ensembl
chr12:27447366..27448533hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667338
Supporting Variants
SamplesNA18986
Known GenesSTK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6125517
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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