A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647756



Internal ID7034495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39031590..39054994hg38UCSC Ensembl
chr22:39427595..39450999hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3823405
hg1923405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427687, essv16427680, essv16427678, essv16427691, essv16427689, essv16427685, essv16427683, essv16427679, essv16427694, essv16427688, essv16427693, essv16427684, essv16427681, essv16427692, essv16427686, essv16427682, essv16427690, essv16427677
SamplesHG03096, HG03484, HG01965, HG03464, NA20287, HG02315, NA19207, HG02586, HG02568, NA19147, NA19473, HG04186, HG02983, HG02974, HG03442, HG03097, NA19463, HG02343
Known GenesAPOBEC3D, APOBEC3F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647756
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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