A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001564



Internal ID6713700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323763..180324739hg38UCSC Ensembl
Outerchr1:180292898..180293874hg19UCSC Ensembl
Outerchr1:178559521..178560497hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565328
SamplesHuRef
Known GenesACBD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001564
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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