A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5908740



Internal ID9269492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67630037..67632024hg38UCSC Ensembl
chr12:68023817..68025804hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678364
Supporting Variants
SamplesNA12383
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5908740
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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