A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002676



Internal ID6714810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1461640..1468944hg38UCSC Ensembl
Outerchr12:1570806..1578110hg19UCSC Ensembl
Outerchr12:1441067..1448371hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387305
hg197305
hg187305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564476
SamplesHuRef
Known GenesERC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002676
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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