A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003104



Internal ID6715239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:34790757..34795666hg38UCSC Ensembl
Outerchr1:35256358..35261267hg19UCSC Ensembl
Outerchr1:35028945..35033854hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg384910
hg194910
hg184910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565781
SamplesHuRef
Known GenesGJA4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003104
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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