A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993123



Internal ID6729084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148374660..148380323hg38UCSC Ensembl
Outerchr7:148071752..148077415hg19UCSC Ensembl
Outerchr7:147702685..147708348hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385664
hg195664
hg185664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565190
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993123
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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