A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14607313



Internal ID2132404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114080507..114081813hg38UCSC Ensembl
Innerchr12:114080524..114081796hg38UCSC Ensembl
Outerchr12:114080490..114081830hg38UCSC Ensembl
chr12:114518312..114519618hg19UCSC Ensembl
Innerchr12:114518329..114519601hg19UCSC Ensembl
Outerchr12:114518295..114519635hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630807
Supporting Variants
SamplesHG01935
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14607313
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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