A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671548



Internal ID9590967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24424142..24424367hg38UCSC Ensembl
Outerchr6:24424105..24424417hg38UCSC Ensembl
Innerchr6:24424370..24424595hg19UCSC Ensembl
Outerchr6:24424333..24424645hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5766224, essv6017032, essv6036017, essv5544507
SamplesNA19746, NA19172, NA19257, NA19129
Known GenesMRS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671548
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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