A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665830



Internal ID9931935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96115194..96115525hg38UCSC Ensembl
chr14:96581531..96581862hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6017125, essv6516530, essv5697470, essv5969180, essv6272691, essv6379323, essv5444904, essv6443742, essv6175967
SamplesNA18502, NA19399, NA18917, NA19920, NA19374, HG00641, NA19707, NA19625, HG01075
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665830
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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