A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4344596



Internal ID11280448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180615471..180615471hg38UCSC Ensembl
chr5:180042471..180042471hg19UCSC Ensembl
chr5:179975077..179975077hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38311
hg19311
hg18311
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1125232
Supporting Variants
SamplesHuRef
Known GenesFLT4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4344596
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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