A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv40e1



Internal ID6307838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17007592..17483981hg19UCSC Ensembl
chr1:16880179..17356568hg18UCSC Ensembl
chr1:16752898..17229287hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Complex
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv9388, essv1499
SamplesNA18853, NA18980
Known GenesATP13A2, CROCC, ESPNP, MFAP2, MIR3675, MST1P9, PADI2, SDHB
Method
Analysis
Platform
Comments
ReferenceRedon et al 2006
Pubmed ID17122850
Accession Number(s)dgv40e1
Frequency
Sample Size271
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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