A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665972



Internal ID9932077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127466115..127468248hg38UCSC Ensembl
chr2:128223691..128225824hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382134
hg192134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6215268, essv5977078, essv6191991, essv5430803, essv6567617, essv5709197, essv5700352, essv6503643, essv6175527, essv6400408, essv5698239, essv6132326, essv6536286, essv6129503, essv5599712, essv5992731
SamplesNA19703, NA19909, NA18504, NA18519, NA19762, NA18498, NA18874, HG00637, NA18908, NA19451, NA18871, NA19114, NA18912, NA18853, NA18523, NA19430
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665972
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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