A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588206



Internal ID6975629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188741364..188746929hg38UCSC Ensembl
Innerchr1:188741514..188746779hg38UCSC Ensembl
Outerchr1:188741214..188747079hg38UCSC Ensembl
chr1:188710495..188716060hg19UCSC Ensembl
Innerchr1:188710645..188715910hg19UCSC Ensembl
Outerchr1:188710345..188716210hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg385566
hg195566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10224503
SamplesHG01108
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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