A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4102981



Internal ID11658894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:206616..206616hg38UCSC Ensembl
chr7:206616..206616hg19UCSC Ensembl
chr7:301699..301699hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38191
hg19191
hg18191
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1628554
Supporting Variants
SamplesHuRef
Known GenesFAM20C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4102981
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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