A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3644947



Internal ID12116921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168296079..168296143hg38UCSC Ensembl
chr6:168696759..168696823hg19UCSC Ensembl
chr6:168439608..168439672hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1267166
Supporting Variants
SamplesHuRef
Known GenesDACT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3644947
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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