A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4156744



Internal ID11092596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:376552..376552hg38UCSC Ensembl
chr5:376667..376667hg19UCSC Ensembl
chr5:429667..429667hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1676154
Supporting Variants
SamplesHuRef
Known GenesAHRR
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4156744
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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