A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612920



Internal ID6653132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:40035084..40158562hg38UCSC Ensembl
chr7:40074683..40198161hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38123479
hg19123479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12750047, essv12750046
SamplesNA18592, HG00457
Known GenesC7orf10, CDK13, MPLKIP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612920
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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