A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695670



Internal ID15054430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:156448097..156449995hg38UCSC Ensembl
Innerchr7:156448995..156449097hg38UCSC Ensembl
Outerchr7:156447097..156450995hg38UCSC Ensembl
chr7:156240791..156242689hg19UCSC Ensembl
Innerchr7:156241689..156241791hg19UCSC Ensembl
Outerchr7:156239791..156243689hg19UCSC Ensembl
chr7:155933552..155935450hg18UCSC Ensembl
Innerchr7:155934552..155934450hg18UCSC Ensembl
Outerchr7:155932552..155936450hg18UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361597
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695670
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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