A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584785



Internal ID18770255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52994359..53007503hg38UCSC Ensembl
Innerchr3:53028375..53041519hg19UCSC Ensembl
Innerchr3:53003415..53016559hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3813145
hg1913145
hg1813145
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9838275, essv9838274, essv9838276
SamplesB4, KSM008, 1WS
Known GenesSFMBT1
MethodSNP array
AnalysisWe applied stringent filtering criteria such that CNV had to be a minimum of 1 kb and span 5 consecutive probes, and be detected by at least 2 out of the 3 algorithms. In addition we excluded CNVs that were on the X and Y-chromosomes, or approximately 300 kb adjacent to the centromeres and telomeres.
PlatformAffymetrix Genome-Wide Human SNP Array 6.0
Comments
ReferenceMokhtar_et_al_2014
Pubmed ID24956385
Accession Number(s)esv3584785
Frequency
Sample Size34
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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