A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574219



Internal ID6698915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50609984..50610064hg38UCSC Ensembl
chr20:49226521..49226601hg19UCSC Ensembl
chr20:48659928..48660008hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002485
Supporting Variants
SamplesHuRef
Known GenesFAM65C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574219
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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