A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3610497



Internal ID12151371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59482889..59482889hg38UCSC Ensembl
chr18:57150121..57150121hg19UCSC Ensembl
chr18:55301101..55301101hg18UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38314
hg19314
hg18314
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1302581
Supporting Variants
SamplesHuRef
Known GenesCCBE1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3610497
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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