A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14590822



Internal ID4592638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101882100..101883343hg38UCSC Ensembl
Innerchr12:101882211..101883253hg38UCSC Ensembl
Outerchr12:101881874..101883569hg38UCSC Ensembl
chr12:102275878..102277121hg19UCSC Ensembl
Innerchr12:102275989..102277031hg19UCSC Ensembl
Outerchr12:102275652..102277347hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381244
hg191244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630582
Supporting Variants
SamplesHG00458
Known GenesDRAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14590822
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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