A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3805623



Internal ID11956248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82972254..82972254hg38UCSC Ensembl
chr17:80930130..80930130hg19UCSC Ensembl
chr17:78523419..78523419hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38192
hg19192
hg18192
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1789492
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3805623
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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