A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6226064



Internal ID9203467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99400169..99408992hg38UCSC Ensembl
chr12:99793947..99802770hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388824
hg198824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668940
Supporting Variants
SamplesNA19755
Known GenesANKS1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6226064
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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