A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585869



Internal ID6973389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43543699..43544317hg38UCSC Ensembl
Innerchr1:43543699..43544317hg38UCSC Ensembl
Outerchr1:43543473..43544508hg38UCSC Ensembl
chr1:44009370..44009988hg19UCSC Ensembl
Innerchr1:44009370..44009988hg19UCSC Ensembl
Outerchr1:44009144..44010179hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9921756, essv9921758, essv9921757
SamplesHG03298, HG02281, HG03367
Known GenesPTPRF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585869
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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