A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417229



Internal ID4419045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27272710..27273514hg38UCSC Ensembl
Innerchr12:27272710..27273514hg38UCSC Ensembl
Outerchr12:27272351..27273807hg38UCSC Ensembl
chr12:27425643..27426447hg19UCSC Ensembl
Innerchr12:27425643..27426447hg19UCSC Ensembl
Outerchr12:27425284..27426740hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628932
Supporting Variants
SamplesNA18562
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417229
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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