A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3964578



Internal ID11450608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88760322..88760644hg38UCSC Ensembl
chr4:89681473..89681795hg19UCSC Ensembl
chr4:89900496..89900818hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1378129
Supporting Variants
SamplesHuRef
Known GenesFAM13A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3964578
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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