A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667094



Internal ID9933199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:78923234..78925840hg38UCSC Ensembl
Outerchr17:78922663..78926210hg38UCSC Ensembl
Innerchr17:76919316..76921922hg19UCSC Ensembl
Outerchr17:76918745..76922292hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383548
hg193548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5894538, essv5798538, essv6038727, essv6013924, essv6560291, essv5910713, essv5609328, essv5868399, essv5461690, essv5934408, essv5931835, essv5708586, essv5819446, essv6403065, essv5759318, essv5571529, essv5563951, essv5923308, essv5720064, essv5804740, essv6515735, essv6352602, essv5533480, essv5766715, essv6342371, essv5530089, essv5724334, essv6274464, essv6312216, essv5469362, essv5424206, essv5919841, essv6372745, essv6314659, essv5701382, essv6062050, essv6202889, essv6200351, essv6447960, essv6586421, essv6426776, essv5530930, essv5708176, essv5468866, essv6393653, essv5895083, essv6235623, essv6227109, essv5822794, essv5592283, essv5405685, essv5694145, essv5764834, essv6214495, essv5846882, essv6551384, essv5903206, essv6592808, essv6340726, essv6103205, essv5511744, essv5505516, essv5854766, essv6055558, essv5832034, essv5919762, essv5399415, essv6339940, essv6086585, essv5705068, essv6151807, essv5779581, essv5794326, essv6100519, essv6049142, essv6266235, essv5635749, essv6582850, essv5819018, essv5741678, essv6136321, essv6506773, essv6166152, essv5634248, essv5480959, essv6056799, essv5560528, essv5526371, essv6316236, essv6578774, essv6295530, essv5854259
SamplesHG01060, HG01441, HG01173, HG01098, HG01356, HG01462, HG01359, HG01052, HG01079, HG01188, HG01389, HG01374, HG01066, HG00640, HG01465, HG00737, HG01461, HG01051, HG01140, HG00641, HG01350, HG01366, HG01070, HG01351, HG01488, HG01167, HG01168, HG01492, HG00736, HG01354, HG01083, HG01365, HG01134, HG01455, HG01069, HG01080, HG01067, HG01170, HG01072, HG01176, HG01440, HG01198, HG00637, HG01048, HG01550, HG01124, HG01353, HG01183, HG01136, HG00731, HG01187, HG01171, HG01384, HG00732, HG01095, HG01149, HG00740, HG01390, HG01047, HG01102, HG01073, HG01197, HG01383, HG01182, HG01101, HG01107, HG01204, HG01075, HG01148, HG01190, HG01551, HG00734, HG00638, HG01357, HG01174, HG01375, HG01137, HG01108, HG01489, HG01342, HG01491, HG01055, HG01251, HG01377, HG01378, HG01082, HG01112, HG01097, HG01191, HG01437, HG01061, HG00553
Known GenesTIMP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667094
Frequency
Sample Size1151
Observed Gain0
Observed Loss92
Observed Complex0
Frequencyn/a


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