A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3764016



Internal ID11997854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:3146003..3146110hg38UCSC Ensembl
chr6:3146237..3146344hg19UCSC Ensembl
chr6:3091236..3091343hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38108
hg19108
hg18108
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1223146
Supporting Variants
SamplesHuRef
Known GenesBPHL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3764016
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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