A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000106



Internal ID6712253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1067440..1068102hg38UCSC Ensembl
Outerchr12:1176606..1177268hg19UCSC Ensembl
Outerchr12:1046867..1047529hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387371
hg197371
hg187371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564963
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000106
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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