A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14579286



Internal ID4392933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96653273..96670511hg38UCSC Ensembl
Innerchr12:96653273..96670511hg38UCSC Ensembl
Outerchr12:96652773..96671011hg38UCSC Ensembl
chr12:97047051..97064289hg19UCSC Ensembl
Innerchr12:97047051..97064289hg19UCSC Ensembl
Outerchr12:97046551..97064789hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817239
hg1917239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630458
Supporting Variants
SamplesHG03914
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14579286
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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