A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1339682



Internal ID12156118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:83892766..83892766hg38UCSC Ensembl
chr1:84358449..84358449hg19UCSC Ensembl
chr1:84131037..84131037hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3902609
SamplesHuRef
Known GenesMIR548AP, TTLL7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1339682
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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