A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843419



Internal ID13622454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73578776..73578776hg38UCSC Ensembl
chr7:72993106..72993106hg19UCSC Ensembl
chr7:72631042..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 StatusS
Merged Variantsesv3310458
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843419
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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