A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1745722



Internal ID12908841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151040605..151040605hg38UCSC Ensembl
chr1:151013081..151013081hg19UCSC Ensembl
chr1:149279705..149279705hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3884163
SamplesHuRef
Known GenesBNIPL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1745722
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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