A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4257458



Internal ID11539996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:914179..914314hg38UCSC Ensembl
chr17:817419..817554hg19UCSC Ensembl
chr17:764169..764304hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1608317
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4257458
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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