A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4158357



Internal ID11094209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4807136..4807191hg38UCSC Ensembl
chr3:4848820..4848875hg19UCSC Ensembl
chr3:4823820..4823875hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1521656
Supporting Variants
SamplesHuRef
Known GenesITPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4158357
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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