A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1368683



Internal ID12185119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39504784..39504784hg38UCSC Ensembl
chr1:39970456..39970456hg19UCSC Ensembl
chr1:39743043..39743043hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38459
hg19459
hg18459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3701537
SamplesHuRef
Known GenesBMP8A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1368683
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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