A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989821



Internal ID7076406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210465857..210465976hg38UCSC Ensembl
chr1:210639201..210639320hg19UCSC Ensembl
chr1:208705824..208705943hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38120
hg19120
hg18120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581153
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989821
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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