A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003476



Internal ID7068582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:120175834..120179977hg38UCSC Ensembl
Outerchr1:145092781..145097124hg19UCSC Ensembl
Outerchr1:143804138..143808481hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384144
hg194344
hg184344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e180
Supporting Variantsessv3565228
SamplesHuRef
Known GenesLOC100288142, NBPF12, NBPF9, SEC22B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003476
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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