A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3798526



Internal ID11616659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1671500..1671500hg38UCSC Ensembl
chr4:1673227..1673227hg19UCSC Ensembl
chr4:1643025..1643025hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38162
hg19162
hg18162
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1465412
Supporting Variants
SamplesHuRef
Known GenesFAM53A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3798526
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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