A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4111922



Internal ID11394461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86900541..86900541hg38UCSC Ensembl
chr1:87366224..87366224hg19UCSC Ensembl
chr1:87138812..87138812hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38126
hg19126
hg18126
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1340746
Supporting Variants
SamplesHuRef
Known GenesSEP15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4111922
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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