A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668828



Internal ID9934933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:188013628..188016784hg38UCSC Ensembl
Outerchr3:188013107..188017154hg38UCSC Ensembl
Innerchr3:187731416..187734572hg19UCSC Ensembl
Outerchr3:187730895..187734942hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg384048
hg194048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6073382, essv5922602, essv6586978, essv6254632, essv6551125, essv5497443, essv6472500, essv6073808, essv5909391, essv5487068, essv6319801, essv6280182, essv5811335, essv5995318, essv5713815, essv6495735, essv6171215, essv5467211, essv6299758, essv5865629, essv6460820, essv5957958, essv5632119, essv5532301, essv5955752, essv5604215, essv6544529, essv5739234, essv6564839, essv5888000, essv5765771, essv6282911, essv6344078, essv5648993, essv5597042, essv6444827, essv6184415, essv6147185, essv5964830, essv5777852, essv6219431, essv5848429, essv5624149, essv5523185
SamplesNA19055, NA18621, NA18999, NA19057, NA18596, NA18530, NA18959, NA18606, NA18633, NA19067, NA18988, NA18550, NA18597, NA18635, NA18942, NA19062, NA18574, NA19079, NA18611, NA18560, NA18986, NA18557, NA18985, NA18638, NA18544, NA18613, NA18976, NA19064, NA19059, NA18536, NA18576, NA18952, NA18950, NA18941, NA19085, NA18610, NA19078, NA19060, NA18983, NA18984, NA18989, NA19004, NA18612, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668828
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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