A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4358577



Internal ID11294429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3694263..3694263hg38UCSC Ensembl
chr1:3610827..3610827hg19UCSC Ensembl
chr1:3600687..3600687hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1115862
Supporting Variants
SamplesHuRef
Known GenesTP73
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4358577
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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