A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3754949



Internal ID11660235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178757228..178757228hg38UCSC Ensembl
chr2:179621955..179621955hg19UCSC Ensembl
chr2:179330200..179330200hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1134788
Supporting Variants
SamplesHuRef
Known GenesTTN
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3754949
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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