A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4317521



Internal ID11253373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5232400..5232400hg38UCSC Ensembl
chr17:5135695..5135695hg19UCSC Ensembl
chr17:5076419..5076419hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3884
hg1984
hg1884
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1669585
Supporting Variants
SamplesHuRef
Known GenesLOC100130950, SCIMP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4317521
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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