A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310458



Internal ID15157409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73578776..73578776hg38UCSC Ensembl
Outerchr7:73578776..73578776hg38UCSC Ensembl
Innerchr7:72993106..72993106hg19UCSC Ensembl
Outerchr7:72993106..72993106hg19UCSC Ensembl
Innerchr7:72631042..72631042hg18UCSC Ensembl
Outerchr7:72631042..72631042hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843419
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310458
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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