A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664371



Internal ID9583790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:21934435..22934234hg38UCSC Ensembl
chr19:22117237..23117036hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38999800
hg19999800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv633e199
Supporting Variantsessv6252232, essv5465132, essv5653349, essv5464503, essv6019503, essv6281817, essv6043832, essv6401189, essv6015411, essv6062111, essv5598101, essv5985053, essv5585890, essv5868196, essv6580897, essv6225095, essv5926075, essv5830865, essv6249966, essv5769975, essv5611892, essv5786827, essv5906155, essv6150431, essv5567516, essv6569014, essv5957302, essv6249034, essv6215964, essv5399035, essv5472288, essv6119601, essv6424570, essv5822333
SamplesNA19909, NA18565, HG00306, NA19057, NA18616, NA18567, NA18619, NA18618, NA12283, NA18498, NA19130, NA18949, NA18611, NA18874, HG01440, NA19901, NA20755, NA20800, HG00266, NA19236, HG00740, HG01383, NA12827, NA18945, HG00155, NA20803, HG01342, NA06986, NA20807, NA20758, NA19463, NA18622, NA18965, NA18577
Known GenesLOC100996349, LOC440518, ZNF208, ZNF257, ZNF492, ZNF676, ZNF729, ZNF98, ZNF99
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664371
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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