A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1521656



Internal ID12338092
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4158357
SamplesHuRef
Known GenesITPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1521656
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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