A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6014509



Internal ID9214663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31364328..31366843hg38UCSC Ensembl
Outerchr12:31364291..31366893hg38UCSC Ensembl
Innerchr12:31517262..31519777hg19UCSC Ensembl
Outerchr12:31517225..31519827hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382603
hg192603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666821
Supporting Variants
SamplesNA07346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6014509
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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