A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701496



Internal ID13297498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114436562..114436562hg38UCSC Ensembl
Innerchr7:114436561..114436563hg38UCSC Ensembl
Outerchr7:114436512..114436612hg38UCSC Ensembl
chr7:114076617..114076617hg19UCSC Ensembl
Innerchr7:114076616..114076618hg19UCSC Ensembl
Outerchr7:114076567..114076667hg19UCSC Ensembl
chr7:113863853..113863853hg18UCSC Ensembl
Innerchr7:113863854..113863852hg18UCSC Ensembl
Outerchr7:113863803..113863903hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3376369
Supporting Variants
SamplesNA12878
Known GenesFOXP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701496
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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