A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1333120



Internal ID12149556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:601846..602446hg38UCSC Ensembl
chr6:601846..602446hg19UCSC Ensembl
chr6:546846..547446hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38601
hg19601
hg18601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3711948
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1333120
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