A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14478768



Internal ID6453681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50045730..50054182hg38UCSC Ensembl
Innerchr12:50045730..50054182hg38UCSC Ensembl
Outerchr12:50045230..50054682hg38UCSC Ensembl
chr12:50439513..50447965hg19UCSC Ensembl
Innerchr12:50439513..50447965hg19UCSC Ensembl
Outerchr12:50439013..50448465hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg388453
hg198453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629470
Supporting Variants
SamplesNA20514
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14478768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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