A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618013



Internal ID7004896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:91081081..91081749hg38UCSC Ensembl
Innerchr8:91081081..91081749hg38UCSC Ensembl
Outerchr8:91080796..91082006hg38UCSC Ensembl
chr8:92093309..92093977hg19UCSC Ensembl
Innerchr8:92093309..92093977hg19UCSC Ensembl
Outerchr8:92093024..92094234hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13254072, essv13254084, essv13254082, essv13254066, essv13254065, essv13254080, essv13254079, essv13254083, essv13254071, essv13254077, essv13254087, essv13254074, essv13254070, essv13254073, essv13254067, essv13254076, essv13254086, essv13254069, essv13254064, essv13254085, essv13254068, essv13254075, essv13254078, essv13254081
SamplesNA20543, HG00231, HG00242, HG00233, HG00115, NA20798, HG00238, HG00185, HG01519, HG02597, HG01699, HG02345, HG01311, HG00146, NA19682, HG00382, HG02282, HG00265, HG00278, NA12873, NA20544, HG00111, HG01464, HG01125
Known GenesOTUD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618013
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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