A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1018822



Internal ID11835261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26714469..26714469hg38UCSC Ensembl
chr2:26937337..26937337hg19UCSC Ensembl
chr2:26790841..26790841hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382417
hg192417
hg182417
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3906740
SamplesHuRef
Known GenesKCNK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1018822
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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