A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7121580



Internal ID10053176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63239695..63242485hg38UCSC Ensembl
Outerchr1:63705366..63708156hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382791
hg192791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2852013
Supporting Variants
SamplesHuRef
Known GenesLINC00466
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7121580
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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