A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14610979



Internal ID4612795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116088654..116090690hg38UCSC Ensembl
Innerchr12:116088658..116090687hg38UCSC Ensembl
Outerchr12:116088651..116090694hg38UCSC Ensembl
chr12:116526459..116528495hg19UCSC Ensembl
Innerchr12:116526463..116528492hg19UCSC Ensembl
Outerchr12:116526456..116528499hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg382037
hg192037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630844
Supporting Variants
SamplesHG00105
Known GenesMED13L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14610979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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