A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3982397



Internal ID11779476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:3649463..3649513hg38UCSC Ensembl
chr19:3649461..3649511hg19UCSC Ensembl
chr19:3600461..3600511hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1403607
Supporting Variants
SamplesHuRef
Known GenesPIP5K1C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3982397
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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