A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4247525



Internal ID11530063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167976185..167976185hg38UCSC Ensembl
chr6:168376865..168376865hg19UCSC Ensembl
chr6:168119714..168119714hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38340
hg19340
hg18340
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1251623
Supporting Variants
SamplesHuRef
Known GenesHGC6.3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4247525
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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