A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309785



Internal ID15156736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117716152..117716153hg38UCSC Ensembl
Innerchr7:117716098..117716207hg38UCSC Ensembl
Outerchr7:117716097..117716208hg38UCSC Ensembl
chr7:117356206..117356207hg19UCSC Ensembl
Innerchr7:117356152..117356261hg19UCSC Ensembl
Outerchr7:117356151..117356262hg19UCSC Ensembl
chr7:117143442..117143443hg18UCSC Ensembl
Innerchr7:117143497..117143388hg18UCSC Ensembl
Outerchr7:117143387..117143498hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838355, essv7837920, essv7838866
SamplesNA12891, NA19238, NA12892
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309785
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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