A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581292



Internal ID6705988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201685221..201685289hg38UCSC Ensembl
chr2:202549944..202550012hg19UCSC Ensembl
chr2:202258189..202258257hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3869
hg1969
hg1869
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003773
Supporting Variants
SamplesHuRef
Known GenesMPP4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581292
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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