A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14609677



Internal ID1087591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115356191..115364622hg38UCSC Ensembl
Innerchr12:115356191..115364622hg38UCSC Ensembl
Outerchr12:115355972..115364816hg38UCSC Ensembl
chr12:115793996..115802427hg19UCSC Ensembl
Innerchr12:115793996..115802427hg19UCSC Ensembl
Outerchr12:115793777..115802621hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg388432
hg198432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630829
Supporting Variants
SamplesHG00708
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14609677
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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