A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617270



Internal ID7004156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55071328..55094385hg38UCSC Ensembl
chr8:55983888..56006945hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3823058
hg1923058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399e214
Supporting Variantsessv13203724, essv13203723
SamplesNA19461, NA20763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617270
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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