A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4212552



Internal ID11148404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45497674..45497674hg38UCSC Ensembl
chr1:45963346..45963346hg19UCSC Ensembl
chr1:45735933..45735933hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38429
hg19429
hg18429
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1477203
Supporting Variants
SamplesHuRef
Known GenesCCDC163P
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4212552
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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