A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9857733



Internal ID6483026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12833682..12888946hg38UCSC Ensembl
Innerchr1:12834183..12888448hg38UCSC Ensembl
Outerchr1:12832682..12889942hg38UCSC Ensembl
chr1:12893536..12948772hg19UCSC Ensembl
Innerchr1:12894036..12948272hg19UCSC Ensembl
Outerchr1:12892536..12949772hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3855265
hg1955237
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585245
Supporting Variants
SamplesNA18969
Known GenesHNRNPCL1, LOC649330, PRAMEF2, PRAMEF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9857733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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