A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3399621



Internal ID15246584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117121890..117121902hg38UCSC Ensembl
Innerchr7:117121884..117121906hg38UCSC Ensembl
Outerchr7:117121874..117121918hg38UCSC Ensembl
chr7:116761944..116761956hg19UCSC Ensembl
Innerchr7:116761938..116761960hg19UCSC Ensembl
Outerchr7:116761928..116761972hg19UCSC Ensembl
chr7:116549180..116549192hg18UCSC Ensembl
Innerchr7:116549196..116549174hg18UCSC Ensembl
Outerchr7:116549164..116549208hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38228
hg19228
hg18228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937160, essv8937156, essv8937148, essv8937153, essv8937149, essv8937152, essv8937159, essv8937154, essv8937155, essv8937157, essv8937150, essv8937146, essv8937161, essv8937151
SamplesNA18960, NA11918, NA07347, NA12761, NA18973, NA18605, NA12489, NA18948, NA18573, NA18856, NA18570, NA12716, NA12154, NA18577
Known GenesST7, ST7-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3399621
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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