A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4116464



Internal ID11052317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77487636..77487805hg38UCSC Ensembl
chr17:75483718..75483887hg19UCSC Ensembl
chr17:72995313..72995482hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38170
hg19170
hg18170
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1440775
Supporting Variants
SamplesHuRef
Known GenesSEPT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4116464
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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