A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14417233



Internal ID4419049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27294433..27295618hg38UCSC Ensembl
Innerchr12:27294433..27295618hg38UCSC Ensembl
Outerchr12:27294131..27295757hg38UCSC Ensembl
chr12:27447366..27448551hg19UCSC Ensembl
Innerchr12:27447366..27448551hg19UCSC Ensembl
Outerchr12:27447064..27448690hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628934
Supporting Variants
SamplesNA18986
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14417233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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