A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4248639



Internal ID11184491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14098042..14098110hg38UCSC Ensembl
chr10:14140041..14140109hg19UCSC Ensembl
chr10:14180047..14180115hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1329436
Supporting Variants
SamplesHuRef
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4248639
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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