A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4298034



Internal ID11233886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202204232..202204232hg38UCSC Ensembl
chr1:202173360..202173360hg19UCSC Ensembl
chr1:200439983..200439983hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1167532
Supporting Variants
SamplesHuRef
Known GenesLGR6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4298034
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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