A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4096132



Internal ID11665743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27101471..27101522hg38UCSC Ensembl
chr2:27324339..27324390hg19UCSC Ensembl
chr2:27177843..27177894hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1742991
Supporting Variants
SamplesHuRef
Known GenesCGREF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4096132
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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