A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683632



Internal ID2685448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12195836..12245171hg38UCSC Ensembl
chr7:12235462..12284797hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3849336
hg1949336
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612244
Supporting Variants
SamplesHG00683
Known GenesTMEM106B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683632
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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