A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601042



Internal ID6641300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:76043563..76051059hg38UCSC Ensembl
Innerchr4:76043563..76051059hg38UCSC Ensembl
Outerchr4:76043487..76051112hg38UCSC Ensembl
chr4:76964716..76972212hg19UCSC Ensembl
Innerchr4:76964716..76972212hg19UCSC Ensembl
Outerchr4:76964640..76972265hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg387497
hg197497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11506829, essv11506807, essv11506817, essv11506820, essv11506819, essv11506824, essv11506811, essv11506806, essv11506804, essv11506825, essv11506830, essv11506835, essv11506805, essv11506836, essv11506832, essv11506818, essv11506831, essv11506814, essv11506808, essv11506812, essv11506815, essv11506813, essv11506809, essv11506823, essv11506821, essv11506828, essv11506810, essv11506834, essv11506816, essv11506833, essv11506826, essv11506822, essv11506827
SamplesHG00309, HG00881, HG01055, HG02314, NA12414, HG01148, NA20533, HG01378, NA19792, NA12762, HG01620, HG00149, HG00637, HG03864, HG02737, NA19000, HG00255, NA18986, HG03649, HG01257, HG02384, NA18988, HG01383, HG01094, HG03009, NA12749, NA20850, HG03716, HG00378, HG03802, HG00272, HG01474, HG00327
Known GenesART3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601042
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer