A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575302



Internal ID6699998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94659443..94659516hg38UCSC Ensembl
chr7:94288755..94288828hg19UCSC Ensembl
chr7:94126691..94126764hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1011269
Supporting Variants
SamplesHuRef
Known GenesPEG10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575302
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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