A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14644441



Internal ID4646285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131843122..131848237hg38UCSC Ensembl
Innerchr12:131843172..131848187hg38UCSC Ensembl
Outerchr12:131843072..131848287hg38UCSC Ensembl
chr12:132327667..132332782hg19UCSC Ensembl
Innerchr12:132327717..132332732hg19UCSC Ensembl
Outerchr12:132327617..132332832hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385116
hg195116
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631278
Supporting Variants
SamplesHG02116
Known GenesMMP17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14644441
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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