A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577648



Internal ID6702344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40752821..40752821hg38UCSC Ensembl
chr4:40754838..40754838hg19UCSC Ensembl
chr4:40449595..40449595hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008692
Supporting Variants
SamplesHuRef
Known GenesNSUN7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577648
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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