A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647345



Internal ID6687400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22162663..22245229hg38UCSC Ensembl
Innerchr22:22162695..22245197hg38UCSC Ensembl
Outerchr22:22162631..22245261hg38UCSC Ensembl
chr22:22517056..22599641hg19UCSC Ensembl
Innerchr22:22517088..22599609hg19UCSC Ensembl
Outerchr22:22517024..22599673hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg3882567
hg1982586
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16372670, essv16372689, essv16372686, essv16372682, essv16372674, essv16372695, essv16372692, essv16372684, essv16372698, essv16372676, essv16372678, essv16372699, essv16372696, essv16372700, essv16372691, essv16372685, essv16372680, essv16372683, essv16372679, essv16372669, essv16372690, essv16372687, essv16372694, essv16372672, essv16372701, essv16372681, essv16372688, essv16372673, essv16372693, essv16372671, essv16372697, essv16372675, essv16372677
SamplesNA12827, HG03058, HG02165, HG03382, NA07037, HG00956, NA18523, HG02060, NA20511, NA18972, HG00326, NA12005, NA19210, NA11893, HG03268, NA19037, HG00158, HG02394, NA12873, NA18856, HG03445, NA20797, NA19462, HG02947, NA10851, NA18646, HG02141, NA12878, HG03240, HG03557, NA18981, NA20772, NA19750
Known GenesVPREB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647345
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