A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4139210



Internal ID11421748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:810302..810302hg38UCSC Ensembl
chr17:713542..713542hg19UCSC Ensembl
chr17:660292..660292hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38426
hg19426
hg18426
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1062480
Supporting Variants
SamplesHuRef
Known GenesNXN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4139210
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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