A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658464



Internal ID9924569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55613850..55616156hg38UCSC Ensembl
Outerchr19:55613479..55616526hg38UCSC Ensembl
Innerchr19:56125216..56127522hg19UCSC Ensembl
Outerchr19:56124845..56127892hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383048
hg193048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5457055, essv5486848, essv6416039, essv5981047, essv6105392, essv5855560, essv5953625, essv5443015, essv5992430, essv6418881, essv6399846, essv5398560, essv6551428, essv5947225, essv6554723, essv6321561, essv5942548, essv5802935, essv6569403, essv6201625, essv5403728, essv5609718, essv6219522, essv5522494, essv6131876, essv6343847, essv5399378, essv5429595, essv5630974, essv6392645, essv6398924, essv5497087, essv5536976, essv5656766, essv5853436, essv6509324, essv5468382, essv5443599
SamplesNA19664, NA19777, NA19684, NA19746, NA19762, NA19728, NA19678, NA19723, NA19771, NA19782, NA19681, NA19720, NA19719, NA19722, NA19725, NA19657, NA19717, NA19663, NA19788, NA19776, NA19750, NA19761, NA19682, NA19756, NA19675, NA19685, NA19729, NA19747, NA19732, NA19679, NA19786, NA19783, NA19779, NA19716, NA19726, NA19661, NA19755, NA19676
Known GenesZNF865
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658464
Frequency
Sample Size1151
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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