A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4232049



Internal ID11514587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423337..39423337hg38UCSC Ensembl
chr5:39423439..39423439hg19UCSC Ensembl
chr5:39459196..39459196hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1469374
Supporting Variants
SamplesHuRef
Known GenesDAB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4232049
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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