A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864758



Internal ID12970682
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 StatusS
Merged Variantsesv3324987
Supporting Variants
SamplesNA12005
Known GenesFOXP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864758
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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