A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1227395



Internal ID12043832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215209546..215209546hg38UCSC Ensembl
chr1:215382889..215382889hg19UCSC Ensembl
chr1:213449512..213449512hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3891
hg1991
hg1891
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4359143
SamplesHuRef
Known GenesKCNK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1227395
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer