A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581424



Internal ID6706120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62686156..62686494hg38UCSC Ensembl
chr1:63151827..63152165hg19UCSC Ensembl
chr1:62924415..62924753hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006212
Supporting Variants
SamplesHuRef
Known GenesDOCK7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581424
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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