A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4153918



Internal ID11089770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30522261..30522261hg38UCSC Ensembl
chr19:31013168..31013168hg19UCSC Ensembl
chr19:35705008..35705008hg18UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1248605
Supporting Variants
SamplesHuRef
Known GenesZNF536
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4153918
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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