A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4133281



Internal ID11415820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:86865233..86865233hg38UCSC Ensembl
chr10:88624990..88624990hg19UCSC Ensembl
chr10:88614970..88614970hg18UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1482533
Supporting Variants
SamplesHuRef
Known GenesBMPR1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4133281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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