A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587150



Internal ID6627457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109300123..109303773hg38UCSC Ensembl
Innerchr1:109300131..109303766hg38UCSC Ensembl
Outerchr1:109300116..109303781hg38UCSC Ensembl
chr1:109842745..109846395hg19UCSC Ensembl
Innerchr1:109842753..109846388hg19UCSC Ensembl
Outerchr1:109842738..109846403hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383651
hg193651
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10054712
SamplesHG02088
Known GenesMYBPHL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587150
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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