A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14410131



Internal ID4207704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22556471..22571194hg38UCSC Ensembl
Innerchr12:22556521..22571144hg38UCSC Ensembl
Outerchr12:22556421..22571244hg38UCSC Ensembl
chr12:22709405..22724128hg19UCSC Ensembl
Innerchr12:22709455..22724078hg19UCSC Ensembl
Outerchr12:22709355..22724178hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3814724
hg1914724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628835
Supporting Variants
SamplesHG03788
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14410131
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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