A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448602



Internal ID15295551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:123642925..123642961hg38UCSC Ensembl
Innerchr7:123642937..123642947hg38UCSC Ensembl
Outerchr7:123642911..123642975hg38UCSC Ensembl
chr7:123282979..123283015hg19UCSC Ensembl
Innerchr7:123282991..123283001hg19UCSC Ensembl
Outerchr7:123282965..123283029hg19UCSC Ensembl
chr7:123070215..123070251hg18UCSC Ensembl
Innerchr7:123070227..123070237hg18UCSC Ensembl
Outerchr7:123070201..123070265hg18UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38199
hg19199
hg18199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8937472, essv8937473
SamplesNA19138, NA18856
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448602
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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