A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674781



Internal ID9594200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:3740779..3741206hg38UCSC Ensembl
Outerchr18:3740742..3741256hg38UCSC Ensembl
Innerchr18:3740779..3741206hg19UCSC Ensembl
Outerchr18:3740742..3741256hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5832437, essv5879486, essv6291315, essv5920534, essv6568379, essv6219096, essv5404132, essv5647327, essv6129330, essv5521541, essv5467960, essv5561535, essv5890699, essv6445125, essv5619443
SamplesHG00537, HG00536, HG00619, HG01072, HG01350, HG01134, NA18557, HG01378, HG00140, HG01073, HG00246, HG01137, NA19770, HG00285, HG00324
Known GenesDLGAP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674781
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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