A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5871307



Internal ID8848710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1815258..1815702hg38UCSC Ensembl
chr12:1924424..1924868hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664626
Supporting Variants
SamplesNA19916
Known GenesCACNA2D4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5871307
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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