A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4090607



Internal ID11671268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21260178..21260178hg38UCSC Ensembl
chr14:21728337..21728337hg19UCSC Ensembl
chr14:20798177..20798177hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38767
hg19767
hg18767
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1560508
Supporting Variants
SamplesHuRef
Known GenesHNRNPC
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4090607
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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