A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12683633



Internal ID2685449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12211884..12235177hg38UCSC Ensembl
chr7:12251510..12274803hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3823294
hg1923294
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612245
Supporting Variants
SamplesHG00556
Known GenesTMEM106B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12683633
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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