A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4115433



Internal ID11051286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37242087..37242087hg38UCSC Ensembl
chr19:37732989..37732989hg19UCSC Ensembl
chr19:42424829..42424829hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1445664
Supporting Variants
SamplesHuRef
Known GenesZNF383
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4115433
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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