A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630535



Internal ID6670671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99684390..99694368hg38UCSC Ensembl
Innerchr12:99684392..99694366hg38UCSC Ensembl
Outerchr12:99684388..99694370hg38UCSC Ensembl
chr12:100078168..100088146hg19UCSC Ensembl
Innerchr12:100078170..100088144hg19UCSC Ensembl
Outerchr12:100078166..100088148hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg389979
hg199979
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14587025, essv14587021, essv14587029, essv14587026, essv14587024, essv14587023, essv14587020, essv14587027, essv14587022, essv14587028
SamplesHG02078, HG02384, HG00654, HG02023, HG02130, NA20287, HG02075, HG02084, HG02049, HG02371
Known GenesANKS1B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630535
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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