A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4270313



Internal ID11552851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:941645..942956hg38UCSC Ensembl
chr17:844885..846196hg19UCSC Ensembl
chr17:791635..792946hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381312
hg191312
hg181312
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1681339
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4270313
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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