A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657532



Internal ID9923637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45072842..45176809hg38UCSC Ensembl
Outerchr6:45072808..45176844hg38UCSC Ensembl
Innerchr6:45040579..45144546hg19UCSC Ensembl
Outerchr6:45040545..45144581hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38104037
hg19104037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5491471
SamplesHG00160
Known GenesSUPT3H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657532
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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