A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993847



Internal ID6729802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75465849..75476136hg38UCSC Ensembl
Outerchr11:75176894..75187181hg19UCSC Ensembl
Outerchr11:74854542..74864829hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3810288
hg1910288
hg1810288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563675
SamplesHuRef
Known GenesGDPD5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993847
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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