A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1056018



Internal ID11872458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69916162..69916162hg38UCSC Ensembl
chr1:70381845..70381845hg19UCSC Ensembl
chr1:70154433..70154433hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3635647
SamplesHuRef
Known GenesLRRC7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1056018
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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