A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672502



Internal ID9938607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:17436309..17448427hg38UCSC Ensembl
chr12:17589243..17601361hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3812119
hg1912119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6512869, essv6260731, essv6083848, essv6337505, essv6385835
SamplesHG01462, NA19704, NA18504, HG01080, NA19338
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672502
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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