A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3339853



Internal ID15186840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130335271..130335280hg38UCSC Ensembl
Innerchr7:130335266..130335285hg38UCSC Ensembl
Outerchr7:130335257..130335294hg38UCSC Ensembl
chr7:129975111..129975120hg19UCSC Ensembl
Innerchr7:129975106..129975125hg19UCSC Ensembl
Outerchr7:129975097..129975134hg19UCSC Ensembl
chr7:129762347..129762356hg18UCSC Ensembl
Innerchr7:129762361..129762342hg18UCSC Ensembl
Outerchr7:129762333..129762370hg18UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864771
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3339853
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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