A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589825



Internal ID6977155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11878888..11882862hg38UCSC Ensembl
Innerchr2:11878888..11882862hg38UCSC Ensembl
Outerchr2:11878610..11883133hg38UCSC Ensembl
chr2:12019014..12022988hg19UCSC Ensembl
Innerchr2:12019014..12022988hg19UCSC Ensembl
Outerchr2:12018736..12023259hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg383975
hg193975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10410470, essv10410446, essv10410453, essv10410445, essv10410481, essv10410465, essv10410460, essv10410449, essv10410464, essv10410457, essv10410480, essv10410461, essv10410485, essv10410474, essv10410462, essv10410447, essv10410459, essv10410475, essv10410466, essv10410456, essv10410486, essv10410448, essv10410468, essv10410463, essv10410469, essv10410479, essv10410472, essv10410476, essv10410473, essv10410467, essv10410458, essv10410477, essv10410478, essv10410482, essv10410484, essv10410450, essv10410454, essv10410455, essv10410452, essv10410471, essv10410483, essv10410451, essv10410487, essv10410444
SamplesNA20766, NA10851, HG02648, NA21100, NA20802, HG01531, HG03963, NA12058, HG00337, NA18489, NA12283, NA12762, NA12005, NA19383, HG00148, HG01628, NA19917, HG01673, NA21107, HG01699, HG00133, NA12489, NA19462, HG01768, NA20832, HG01619, HG02259, HG01286, HG01697, HG00240, NA20821, NA20522, NA19749, HG02308, NA20815, HG01685, NA20804, NA12873, NA19380, HG00125, HG00280, NA19780, NA20827, NA20772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589825
Frequency
Sample Size2504
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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