A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979325



Internal ID12633320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20398561..20468961hg38UCSC Ensembl
Innerchr13:20972700..21043100hg19UCSC Ensembl
Innerchr13:19870700..19941100hg18UCSC Ensembl
Innerchr13:19870700..19941100hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3870401
hg1970401
hg1870401
hg1770401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34984
Supporting Variants
SamplesNA18529
Known GenesCRYL1, MIR4499
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979325
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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