A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302805



Internal ID15149753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134190883..134190954hg38UCSC Ensembl
Innerchr7:134190918..134190918hg38UCSC Ensembl
Outerchr7:134190783..134191054hg38UCSC Ensembl
chr7:133875635..133875706hg19UCSC Ensembl
Innerchr7:133875670..133875670hg19UCSC Ensembl
Outerchr7:133875535..133875806hg19UCSC Ensembl
chr7:133526175..133526246hg18UCSC Ensembl
Innerchr7:133526210..133526210hg18UCSC Ensembl
Outerchr7:133526075..133526346hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7736170, essv7738114, essv7732282, essv7736901, essv7735584, essv7735099, essv7736191, essv7734476, essv7733940, essv7738722, essv7733077, essv7732176, essv7732582, essv7734446, essv7737761, essv7731793
SamplesNA18861, NA10851, NA18545, NA19138, NA18638, NA18579, NA18566, NA19114, NA18912, NA19257, NA19108, NA18501, NA19093, NA18552, NA19129, NA18577
Known GenesLRGUK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302805
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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