A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676813



Internal ID9596232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29614477..29615373hg38UCSC Ensembl
chr21:30986797..30987693hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6287775, essv5895486, essv6575197, essv5972720, essv5995306, essv5835870, essv5954482, essv6517682, essv6470794, essv5592731, essv5602072, essv5988770, essv5802341, essv6491863, essv5928472, essv6347337, essv6011409, essv6369526, essv5836820, essv6080275, essv6209452, essv5885482, essv5504012, essv6300430, essv5668186, essv5521682, essv6349506
SamplesNA19909, NA19350, NA19190, NA19382, NA19313, NA19138, NA19681, NA19904, NA19908, NA19462, NA19455, NA19982, NA19114, NA19449, NA18912, NA19099, NA19225, NA19395, NA19435, HG01375, NA19334, NA19439, HG01108, NA19398, NA19102, NA19463, HG01061
Known GenesGRIK1, GRIK1-AS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676813
Frequency
Sample Size1151
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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