A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669873



Internal ID9589292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99424413..99426260hg38UCSC Ensembl
chr12:99818191..99820038hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381848
hg191848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv307e199
Supporting Variantsessv5530979, essv6268590, essv6105355, essv6225367, essv6440960
SamplesNA11829, HG00262, HG00245, NA12763, HG00111
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669873
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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