A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664751



Internal ID9930856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241810711..241810795hg38UCSC Ensembl
Outerchr2:241810674..241810845hg38UCSC Ensembl
Innerchr2:242751806..242751890hg19UCSC Ensembl
Outerchr2:242751769..242751940hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6417038, essv5825942, essv6020110, essv6256751, essv6088748, essv6067728, essv5973035, essv5741648, essv6218844, essv6133925, essv5928486, essv6056755, essv5886901, essv5707140, essv5894238, essv6408030
SamplesHG00442, HG00693, NA18557, NA18613, HG00500, NA18608, NA18542, HG00418, HG00620, NA18636, HG00472, NA18623, NA18612, HG00437, NA18562, NA18620
Known GenesNEU4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664751
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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