A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676663



Internal ID14673727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114228775..114228825hg38UCSC Ensembl
Innerchr7:114228784..114228814hg38UCSC Ensembl
Outerchr7:114228736..114228864hg38UCSC Ensembl
chr7:113868830..113868880hg19UCSC Ensembl
Innerchr7:113868839..113868869hg19UCSC Ensembl
Outerchr7:113868791..113868919hg19UCSC Ensembl
chr7:113656066..113656116hg18UCSC Ensembl
Innerchr7:113656105..113656075hg18UCSC Ensembl
Outerchr7:113656027..113656155hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38184
hg19184
hg18184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3357991
Supporting Variants
SamplesNA19238
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676663
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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