A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4059620



Internal ID11702254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49622040..49622040hg38UCSC Ensembl
chr10:50830086..50830086hg19UCSC Ensembl
chr10:50500092..50500092hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1348586
Supporting Variants
SamplesHuRef
Known GenesCHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4059620
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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