A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007587



Internal ID6719700
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563775
SamplesHuRef
Known GenesCCR10, CNTNAP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007587
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer