A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981494



Internal ID12625518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110395003..110465637hg38UCSC Ensembl
Innerchr13:111047350..111117984hg19UCSC Ensembl
Innerchr13:109845351..109915985hg18UCSC Ensembl
Innerchr13:109845351..109915985hg17UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3870635
hg1970635
hg1870635
hg1770635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751128
Supporting Variants
SamplesBEC_280
Known GenesCOL4A2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981494
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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