A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563775



Internal ID6688158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:42680896..42694827hg38UCSC Ensembl
Outerchr17:40832914..40846845hg19UCSC Ensembl
Outerchr17:38086440..38100371hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3813932
hg1913932
hg1813932
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007587
Supporting Variants
SamplesHuRef
Known GenesCCR10, CNTNAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563775
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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