A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3857846



Internal ID11904025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200816787..200816893hg38UCSC Ensembl
chr1:200785915..200786021hg19UCSC Ensembl
chr1:199052538..199052644hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38107
hg19107
hg18107
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1463839
Supporting Variants
SamplesHuRef
Known GenesCAMSAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3857846
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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