A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574981



Internal ID6699677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:2876495..2876641hg38UCSC Ensembl
chr18:2876493..2876639hg19UCSC Ensembl
chr18:2866493..2866639hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38147
hg19147
hg18147
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007840
Supporting Variants
SamplesHuRef
Known GenesEMILIN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574981
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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