A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4039827



Internal ID11722047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201211016..201211016hg38UCSC Ensembl
chr1:201180144..201180144hg19UCSC Ensembl
chr1:199446767..199446767hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1754216
Supporting Variants
SamplesHuRef
Known GenesIGFN1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4039827
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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