A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14571521



Internal ID3151807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93501038..93501927hg38UCSC Ensembl
Innerchr12:93501038..93501927hg38UCSC Ensembl
Outerchr12:93500826..93502299hg38UCSC Ensembl
chr12:93894814..93895703hg19UCSC Ensembl
Innerchr12:93894814..93895703hg19UCSC Ensembl
Outerchr12:93894602..93896075hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38890
hg19890
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630401
Supporting Variants
SamplesHG02774
Known GenesMRPL42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14571521
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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