A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3860307



Internal ID11901564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55543129..55543376hg38UCSC Ensembl
chr6:55407927..55408174hg19UCSC Ensembl
chr6:55515886..55516133hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1503742
Supporting Variants
SamplesHuRef
Known GenesHMGCLL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3860307
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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