A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1340531



Internal ID12156967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85739616..85739938hg38UCSC Ensembl
chr4:86660769..86661091hg19UCSC Ensembl
chr4:86879793..86880115hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3968635
SamplesHuRef
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1340531
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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