A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676485



Internal ID9942590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12847535..12862356hg38UCSC Ensembl
chr12:13000469..13015290hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3814822
hg1914822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6393735, essv6592117
SamplesHG00338, HG00176
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676485
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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