A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657722



Internal ID9923827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41606044..41606932hg38UCSC Ensembl
chr1:42071715..42072603hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6577099, essv5401558, essv6404818, essv6159332, essv5930450, essv6482124, essv6526898, essv6232511, essv5978873, essv6018335, essv5444872, essv5710657, essv5832999
SamplesNA18917, NA19092, NA19383, NA19189, NA18908, NA18910, NA18871, NA19712, NA19360, NA19376, NA20758, NA19316, NA19346
Known GenesHIVEP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657722
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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