A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672839



Internal ID9938944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7563757..7568642hg38UCSC Ensembl
chr12:7716353..7721238hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384886
hg194886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5549815, essv6585051, essv5638693
SamplesHG01060, NA19456, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672839
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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