A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3324987



Internal ID14825268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:114173607..114173616hg38UCSC Ensembl
Innerchr7:114173611..114173612hg38UCSC Ensembl
Outerchr7:114173602..114173621hg38UCSC Ensembl
chr7:113813662..113813671hg19UCSC Ensembl
Innerchr7:113813666..113813667hg19UCSC Ensembl
Outerchr7:113813657..113813676hg19UCSC Ensembl
chr7:113600898..113600907hg18UCSC Ensembl
Innerchr7:113600903..113600902hg18UCSC Ensembl
Outerchr7:113600893..113600912hg18UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864758
SamplesNA12005
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3324987
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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