A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4162247



Internal ID11098099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35105994..35105994hg38UCSC Ensembl
chr19:35596898..35596898hg19UCSC Ensembl
chr19:40288738..40288738hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1320761
Supporting Variants
SamplesHuRef
Known GenesHPN-AS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4162247
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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