A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572383



Internal ID7043765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:64989892..64989894hg38UCSC Ensembl
chr4:65855610..65855612hg19UCSC Ensembl
chr4:65538205..65538207hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001585
Supporting Variants
SamplesHuRef
Known GenesLOC401134
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572383
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