A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4207944



Internal ID11143796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24464827..24465013hg38UCSC Ensembl
chr8:24322340..24322526hg19UCSC Ensembl
chr8:24378230..24378416hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38187
hg19187
hg18187
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1752768
Supporting Variants
SamplesHuRef
Known GenesADAM7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4207944
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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