A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3795596



Internal ID11966275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168316557..168317942hg38UCSC Ensembl
chr6:168717237..168718622hg19UCSC Ensembl
chr6:168460086..168461471hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381386
hg191386
hg181386
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1675508
Supporting Variants
SamplesHuRef
Known GenesDACT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3795596
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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