A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4027231



Internal ID11734643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14101564..14101564hg38UCSC Ensembl
chr8:13959073..13959073hg19UCSC Ensembl
chr8:14003444..14003444hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1051749
Supporting Variants
SamplesHuRef
Known GenesSGCZ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4027231
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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