A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3681393



Internal ID12080476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:176218211..176218211hg38UCSC Ensembl
chr4:177139362..177139362hg19UCSC Ensembl
chr4:177376356..177376356hg18UCSC Ensembl
Cytoband4q34.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1348309
Supporting Variants
SamplesHuRef
Known GenesASB5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3681393
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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