A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14450479



Internal ID4257918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39715575..39746927hg38UCSC Ensembl
Innerchr12:39715575..39746927hg38UCSC Ensembl
Outerchr12:39715075..39747427hg38UCSC Ensembl
chr12:40109377..40140729hg19UCSC Ensembl
Innerchr12:40109377..40140729hg19UCSC Ensembl
Outerchr12:40108877..40141229hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3831353
hg1931353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629271
Supporting Variants
SamplesHG03826
Known GenesC12orf40
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14450479
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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