A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989116



Internal ID6725086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64855861..64855956hg38UCSC Ensembl
chr11:64623333..64623428hg19UCSC Ensembl
chr11:64379909..64380004hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583782
SamplesHuRef
Known GenesEHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989116
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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