A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659183



Internal ID9925288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70761501..70765246hg38UCSC Ensembl
chr2:70988633..70992378hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383746
hg193746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5540184, essv6512800, essv6398864, essv5740103, essv6354040, essv5474280, essv6571149, essv6458931, essv6279024
SamplesNA18868, NA20340, NA20127, NA19908, NA19391, NA19375, NA20276, NA19102, NA19116
Known GenesADD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659183
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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