A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4002257



Internal ID11412930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74301909..74302109hg38UCSC Ensembl
chr17:72298048..72298248hg19UCSC Ensembl
chr17:69809643..69809843hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38201
hg19201
hg18201
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1307217
Supporting Variants
SamplesHuRef
Known GenesDNAI2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4002257
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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