A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34349



Internal ID12643702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:72578056..73341521hg38UCSC Ensembl
Innerchr7:72043041..72755520hg19UCSC Ensembl
Innerchr7:71680977..72393456hg18UCSC Ensembl
Innerchr7:71487692..72200171hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38763466
hg19712480
hg18712480
hg17712480
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978340, essv6978341
SamplesNA19003
Known GenesFKBP6, GTF2IP1, LOC100093631, LOC100101148, LOC541473, MIR4650-1, MIR4650-2, NCF1B, NSUN5, NSUN5P2, PMS2L2, PMS2P5, POM121, SBDSP1, SPDYE7P, SPDYE8P, STAG3L1, STAG3L3, TRIM50, TRIM73, TRIM74, TYW1B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34349
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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