A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675244



Internal ID9594663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3504090..3507481hg38UCSC Ensembl
Outerchr18:3504053..3507531hg38UCSC Ensembl
Innerchr18:3504088..3507479hg19UCSC Ensembl
Outerchr18:3504051..3507529hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg383479
hg193479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv577e199
Supporting Variantsessv6331261
SamplesNA11994
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675244
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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