A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1348268



Internal ID12164704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63239695..63242485hg38UCSC Ensembl
chr1:63705366..63708156hg19UCSC Ensembl
chr1:63477954..63480744hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg382791
hg192791
hg182791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3858650
SamplesHuRef
Known GenesLINC00466
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1348268
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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