A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671739



Internal ID9937844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69523193..69524522hg38UCSC Ensembl
chr4:70388911..70390240hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg381330
hg191330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6507115, essv5962104, essv5843977, essv5487320, essv6112716, essv5756507, essv5815144, essv6422905, essv6244124
SamplesHG00626, NA18530, NA19068, HG00589, NA18560, NA19007, NA19070, NA19064, NA18536
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671739
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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