A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1387664



Internal ID12550786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46824894..46824968hg38UCSC Ensembl
chr6:46792631..46792705hg19UCSC Ensembl
chr6:46900590..46900664hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3818938
SamplesHuRef
Known GenesMEP1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1387664
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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