A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12909998



Internal ID2911814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:101206795..101265542hg38UCSC Ensembl
chr7:100850076..100908823hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3858748
hg1958748
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614319
Supporting Variants
SamplesNA07347
Known GenesCLDN15, FIS1, PLOD3, ZNHIT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12909998
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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