A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306108



Internal ID14806370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147505331..147505332hg38UCSC Ensembl
Innerchr7:147505314..147505349hg38UCSC Ensembl
Outerchr7:147505313..147505350hg38UCSC Ensembl
chr7:147202423..147202424hg19UCSC Ensembl
Innerchr7:147202406..147202441hg19UCSC Ensembl
Outerchr7:147202405..147202442hg19UCSC Ensembl
chr7:146833356..146833357hg18UCSC Ensembl
Innerchr7:146833374..146833339hg18UCSC Ensembl
Outerchr7:146833338..146833375hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7829632, essv7812555, essv7818110, essv7827940, essv7792203, essv7836498, essv7771599, essv7826117, essv7832223, essv7793131, essv7833042, essv7781200, essv7831301
SamplesNA19093, NA18489, NA19143, NA18912, NA18508, NA18498, NA19238, NA18510, NA19138, NA18909, NA19099, NA18499, NA19240
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306108
Frequency
Sample Size185
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer