A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660122



Internal ID9579541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2437743..2438128hg38UCSC Ensembl
chr12:2546909..2547294hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5567394, essv5397991, essv5654707, essv6375707, essv5813951, essv5952866, essv6461416, essv5924503, essv5551293
SamplesNA18534, NA18960, NA19088, HG00436, HG00653, NA18577, HG00654, HG00275, HG00278
Known GenesCACNA1C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660122
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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