A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6009389



Internal ID8762011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52692552..52693917hg38UCSC Ensembl
chr12:53086336..53087701hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381366
hg191366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659959
Supporting Variants
SamplesHG00153
Known GenesKRT77
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6009389
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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