A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695511



Internal ID13700860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131586853..131587851hg38UCSC Ensembl
Innerchr7:131586852..131587852hg38UCSC Ensembl
Outerchr7:131585853..131588851hg38UCSC Ensembl
chr7:131271612..131272610hg19UCSC Ensembl
Innerchr7:131271611..131272611hg19UCSC Ensembl
Outerchr7:131270612..131273610hg19UCSC Ensembl
chr7:130922152..130923150hg18UCSC Ensembl
Innerchr7:130923151..130922151hg18UCSC Ensembl
Outerchr7:130921152..130924150hg18UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451457
Supporting Variants
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695511
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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