A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672495



Internal ID9591914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99762302..99762509hg38UCSC Ensembl
chr12:100156080..100156287hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5645394, essv5847507, essv6024505, essv6240724, essv6581114, essv6415147, essv5795174, essv6292553, essv6363252, essv6450662, essv5482966
SamplesHG00613, HG00437, HG00463, NA18546, HG00543, HG00583, NA18566, HG00524, HG00512, HG00663, NA18544
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672495
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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