A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005917



Internal ID7071011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:136992100..136993362hg38UCSC Ensembl
Outerchr6:137313237..137314499hg19UCSC Ensembl
Outerchr6:137354930..137356192hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381263
hg191263
hg181263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564527
SamplesHuRef
Known GenesNHEG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005917
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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