A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9893919



Internal ID2960288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26312720..26316698hg38UCSC Ensembl
Innerchr1:26312758..26316660hg38UCSC Ensembl
Outerchr1:26312682..26316736hg38UCSC Ensembl
chr1:26639211..26643189hg19UCSC Ensembl
Innerchr1:26639249..26643151hg19UCSC Ensembl
Outerchr1:26639173..26643227hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383979
hg193979
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585537
Supporting Variants
SamplesHG02613
Known GenesUBXN11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9893919
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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