A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3741059



Internal ID12020811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104057456..104057456hg38UCSC Ensembl
chr10:105817214..105817214hg19UCSC Ensembl
chr10:105807204..105807204hg18UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1658839
Supporting Variants
SamplesHuRef
Known GenesCOL17A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3741059
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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