A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14604211



Internal ID6467338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111370212..111373977hg38UCSC Ensembl
Innerchr12:111370231..111373958hg38UCSC Ensembl
Outerchr12:111370193..111373996hg38UCSC Ensembl
chr12:111808016..111811781hg19UCSC Ensembl
Innerchr12:111808035..111811762hg19UCSC Ensembl
Outerchr12:111807997..111811800hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383766
hg193766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630753
Supporting Variants
SamplesNA20519
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14604211
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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