A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9857811



Internal ID1342611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12836585..12869005hg38UCSC Ensembl
Innerchr1:12837085..12868505hg38UCSC Ensembl
Outerchr1:12835587..12870005hg38UCSC Ensembl
chr1:12896438..12928826hg19UCSC Ensembl
Innerchr1:12896938..12928326hg19UCSC Ensembl
Outerchr1:12895438..12929826hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3832421
hg1932389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585246
Supporting Variants
SamplesHG01183
Known GenesHNRNPCL1, LOC649330, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9857811
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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