A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3903881



Internal ID11857990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48187424..48187424hg38UCSC Ensembl
chr19:48690681..48690681hg19UCSC Ensembl
chr19:53382493..53382493hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3867
hg1967
hg1867
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1261804
Supporting Variants
SamplesHuRef
Known GenesC19orf68
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3903881
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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