A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3920782



Internal ID11841089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83022452..83022546hg38UCSC Ensembl
chr17:80980328..80980422hg19UCSC Ensembl
chr17:78573617..78573711hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3895
hg1995
hg1895
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1508603
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3920782
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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