A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695512



Internal ID15093773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131653653..131655051hg38UCSC Ensembl
Innerchr7:131654051..131654653hg38UCSC Ensembl
Outerchr7:131652653..131656051hg38UCSC Ensembl
chr7:131338412..131339810hg19UCSC Ensembl
Innerchr7:131338810..131339412hg19UCSC Ensembl
Outerchr7:131337412..131340810hg19UCSC Ensembl
chr7:130988952..130990350hg18UCSC Ensembl
Innerchr7:130989952..130989350hg18UCSC Ensembl
Outerchr7:130987952..130991350hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374881
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695512
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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