A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9635869



Internal ID13344271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117716175..117716194hg38UCSC Ensembl
Innerchr7:117716171..117716198hg38UCSC Ensembl
Outerchr7:117716152..117716217hg38UCSC Ensembl
chr7:117356229..117356248hg19UCSC Ensembl
Innerchr7:117356225..117356252hg19UCSC Ensembl
Outerchr7:117356206..117356271hg19UCSC Ensembl
chr7:117143465..117143484hg18UCSC Ensembl
Innerchr7:117143488..117143461hg18UCSC Ensembl
Outerchr7:117143442..117143507hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3415000
Supporting Variants
SamplesNA12043
Known GenesCTTNBP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9635869
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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