A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8937149



Internal ID13388461
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 StatusS
Merged Variantsesv3399621
Supporting Variants
SamplesNA12154
Known GenesST7, ST7-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8937149
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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