A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677787



Internal ID9943892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141566547..141570753hg38UCSC Ensembl
Outerchr2:141566176..141571123hg38UCSC Ensembl
Innerchr2:142324116..142328322hg19UCSC Ensembl
Outerchr2:142323745..142328692hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg384948
hg194948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv736e199
Supporting Variantsessv6513288, essv6519009, essv5784347, essv5443035, essv5904687, essv6433556, essv5550478, essv5557848, essv5849777, essv6417899, essv6372541, essv5800221, essv6588541, essv5453663
SamplesHG00249, HG00257, HG00233, HG00138, HG00158, HG00262, HG00118, HG00253, HG00264, HG00141, HG00124, HG00265, HG00237, HG00111
Known GenesLRP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677787
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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