A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5604484



Internal ID8581887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27272728..27273500hg38UCSC Ensembl
chr12:27425661..27426433hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38773
hg19773
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2672021
Supporting Variants
SamplesHG00525
Known GenesSTK38L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5604484
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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