A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14430206



Internal ID477749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30572920..30574972hg38UCSC Ensembl
Innerchr12:30572970..30574922hg38UCSC Ensembl
Outerchr12:30572870..30575022hg38UCSC Ensembl
chr12:30725853..30727905hg19UCSC Ensembl
Innerchr12:30725903..30727855hg19UCSC Ensembl
Outerchr12:30725803..30727955hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382053
hg192053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629020
Supporting Variants
SamplesHG00157
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14430206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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