A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675639



Internal ID9941744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:74365191..74366607hg38UCSC Ensembl
Outerchr14:74365034..74366760hg38UCSC Ensembl
Innerchr14:74831894..74833310hg19UCSC Ensembl
Outerchr14:74831737..74833463hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381727
hg191727
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5633206, essv5924954, essv6285959, essv5713474
SamplesNA19399, NA19451, NA19390, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675639
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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