A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5626736



Internal ID9007447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:114415717..114417332hg38UCSC Ensembl
Outerchr2:114415680..114417382hg38UCSC Ensembl
Innerchr2:115173294..115174909hg19UCSC Ensembl
Outerchr2:115173257..115174959hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381703
hg191703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2663403
Supporting Variants
SamplesHG00614
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5626736
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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