A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1708635



Internal ID12525067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:501628..501628hg38UCSC Ensembl
chr6:501628..501628hg19UCSC Ensembl
chr6:446628..446628hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4082007
SamplesHuRef
Known GenesEXOC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1708635
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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