A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14579264



Internal ID5609770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96470493..96472616hg38UCSC Ensembl
Innerchr12:96470509..96472600hg38UCSC Ensembl
Outerchr12:96470477..96472632hg38UCSC Ensembl
chr12:96864271..96866394hg19UCSC Ensembl
Innerchr12:96864287..96866378hg19UCSC Ensembl
Outerchr12:96864255..96866410hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382124
hg192124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630453
Supporting Variants
SamplesNA19038
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14579264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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