A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6447477



Internal ID9272370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23000891..23004863hg38UCSC Ensembl
chr12:23153825..23157797hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg383973
hg193973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657408
Supporting Variants
SamplesNA12400
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6447477
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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