A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3818938



Internal ID11942933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46824894..46824968hg38UCSC Ensembl
chr6:46792631..46792705hg19UCSC Ensembl
chr6:46900590..46900664hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1387664
Supporting Variants
SamplesHuRef
Known GenesMEP1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3818938
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