A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9857507



Internal ID6482800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12818031..12873451hg38UCSC Ensembl
Innerchr1:12818078..12873405hg38UCSC Ensembl
Outerchr1:12817985..12873498hg38UCSC Ensembl
chr1:12877893..12933272hg19UCSC Ensembl
Innerchr1:12877940..12933226hg19UCSC Ensembl
Outerchr1:12877847..12933319hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3855421
hg1955380
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585244
Supporting Variants
SamplesNA12044
Known GenesHNRNPCL1, LOC649330, PRAMEF11, PRAMEF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9857507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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