A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565530



Internal ID6690226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85315319..85345310hg38UCSC Ensembl
Outerchr2:85542442..85572433hg19UCSC Ensembl
Outerchr2:85395953..85425944hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3829992
hg1929992
hg1829992
Variant TypeOTHER inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004049
Supporting Variants
SamplesHuRef
Known GenesRETSAT, TGOLN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565530
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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