A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732384



Internal ID13878730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:60868016..60868742hg38UCSC Ensembl
Outerchr8:60867816..60868942hg38UCSC Ensembl
Innerchr8:61780575..61781301hg19UCSC Ensembl
Outerchr8:61780375..61781501hg19UCSC Ensembl
Innerchr8:61943129..61943855hg18UCSC Ensembl
Outerchr8:61942929..61944055hg18UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg381127
hg191127
hg181127
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302707
Supporting Variants
SamplesNA18519
Known GenesCHD7
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732384
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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