A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3969909



Internal ID11791963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:83011959..83012199hg38UCSC Ensembl
chr17:80969835..80970075hg19UCSC Ensembl
chr17:78563124..78563364hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1288528
Supporting Variants
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3969909
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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