A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583782



Internal ID6708478
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 StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989116
Supporting Variants
SamplesHuRef
Known GenesEHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583782
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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