A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628934



Internal ID6669074
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14417233
SamplesNA18986
Known GenesSTK38L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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