A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4097515



Internal ID11317674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47426997..47427076hg38UCSC Ensembl
chr2:47654136..47654215hg19UCSC Ensembl
chr2:47507640..47507719hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1070809
Supporting Variants
SamplesHuRef
Known GenesMSH2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4097515
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