A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4112149



Internal ID11394688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8409465..8409465hg38UCSC Ensembl
chr17:8312783..8312783hg19UCSC Ensembl
chr17:8253508..8253508hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg384658
hg194658
hg184658
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1538717
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4112149
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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