A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608858



Internal ID6995782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45198706..45280112hg38UCSC Ensembl
Innerchr6:45198710..45280109hg38UCSC Ensembl
Outerchr6:45198703..45280116hg38UCSC Ensembl
chr6:45166443..45247849hg19UCSC Ensembl
Innerchr6:45166447..45247846hg19UCSC Ensembl
Outerchr6:45166440..45247853hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3881407
hg1981407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12333963
SamplesNA11920
Known GenesSUPT3H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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