A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3974220



Internal ID11440967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1092997..1092997hg38UCSC Ensembl
chr16:1142997..1142997hg19UCSC Ensembl
chr16:1082998..1082998hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38560
hg19560
hg18560
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1360970
Supporting Variants
SamplesHuRef
Known GenesC1QTNF8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3974220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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