A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004049



Internal ID6716175
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565530
SamplesHuRef
Known GenesRETSAT, TGOLN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004049
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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