A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344888



Internal ID15191872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39259128..39261226hg38UCSC Ensembl
Innerchr7:39260128..39260226hg38UCSC Ensembl
Outerchr7:39258128..39262226hg38UCSC Ensembl
chr7:39298727..39300825hg19UCSC Ensembl
Innerchr7:39299727..39299825hg19UCSC Ensembl
Outerchr7:39297727..39301825hg19UCSC Ensembl
chr7:39265252..39267350hg18UCSC Ensembl
Innerchr7:39266252..39266350hg18UCSC Ensembl
Outerchr7:39264252..39268350hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695774
SamplesNA19240
Known GenesPOU6F2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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