A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307357



Internal ID15154305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117121887..117121888hg38UCSC Ensembl
Innerchr7:117121860..117121915hg38UCSC Ensembl
Outerchr7:117121859..117121916hg38UCSC Ensembl
chr7:116761941..116761942hg19UCSC Ensembl
Innerchr7:116761914..116761969hg19UCSC Ensembl
Outerchr7:116761913..116761970hg19UCSC Ensembl
chr7:116549177..116549178hg18UCSC Ensembl
Innerchr7:116549205..116549150hg18UCSC Ensembl
Outerchr7:116549149..116549206hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7755719, essv7753016, essv7749138, essv7747360, essv7748272, essv7743528, essv7749032, essv7752002, essv7752397, essv7760866, essv7754315, essv7752266, essv7762433, essv7750876
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)esv3307357
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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