A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14338161



Internal ID4339977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2917600..2920412hg38UCSC Ensembl
Innerchr12:2917621..2920391hg38UCSC Ensembl
Outerchr12:2917579..2920433hg38UCSC Ensembl
chr12:3026766..3029578hg19UCSC Ensembl
Innerchr12:3026787..3029557hg19UCSC Ensembl
Outerchr12:3026745..3029599hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382813
hg192813
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628328
Supporting Variants
SamplesHG01176
Known GenesTULP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14338161
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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