A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7121802



Internal ID10053398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61924930..61925279hg38UCSC Ensembl
Outerchr1:62390602..62390951hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2852235
Supporting Variants
SamplesHuRef
Known GenesINADL
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7121802
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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