A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613073



Internal ID6999971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47903073..48053083hg38UCSC Ensembl
chr7:47942670..48092680hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38150011
hg19150011
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12762054
SamplesHG04153
Known GenesC7orf57, HUS1, PKD1L1, SUN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613073
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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