A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9922158



Internal ID1381729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43593619..43594279hg38UCSC Ensembl
Innerchr1:43593680..43594218hg38UCSC Ensembl
Outerchr1:43593558..43594340hg38UCSC Ensembl
chr1:44059290..44059950hg19UCSC Ensembl
Innerchr1:44059351..44059889hg19UCSC Ensembl
Outerchr1:44059229..44060011hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38661
hg19661
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585870
Supporting Variants
SamplesHG01251
Known GenesPTPRF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9922158
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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