A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14601562



Internal ID1812652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105952262..105953083hg38UCSC Ensembl
Innerchr12:105952289..105953057hg38UCSC Ensembl
Outerchr12:105952236..105953110hg38UCSC Ensembl
chr12:106346040..106346861hg19UCSC Ensembl
Innerchr12:106346067..106346835hg19UCSC Ensembl
Outerchr12:106346014..106346888hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38822
hg19822
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630674
Supporting Variants
SamplesHG01685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14601562
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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