A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3667277



Internal ID12094592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110481849..110481849hg38UCSC Ensembl
chr13:111134196..111134196hg19UCSC Ensembl
chr13:109932197..109932197hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38354
hg19354
hg18354
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1576880
Supporting Variants
SamplesHuRef
Known GenesCOL4A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3667277
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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