A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3623196



Internal ID12138672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75503870..75503870hg38UCSC Ensembl
chr5:74799695..74799695hg19UCSC Ensembl
chr5:74835451..74835451hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1293475
Supporting Variants
SamplesHuRef
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3623196
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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