A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13040075



Internal ID5840376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157102797..157121050hg38UCSC Ensembl
chr7:156895491..156913744hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3818254
hg1918254
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615682
Supporting Variants
SamplesNA19213
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13040075
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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