A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675542



Internal ID4719876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32630216..32633722hg19UCSC Ensembl
Outerchr6:32629845..32634092hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6318136, essv5840365, essv6506360, essv6209476, essv6050435, essv5926708, essv6306327, essv5448847, essv5853162, essv6388350, essv6162523, essv5698561, essv5617501, essv5683785, essv5500357, essv6143839, essv5521099, essv6530920, essv5805698, essv5872638, essv5913482, essv6170064, essv6285802, essv6392610, essv5459877, essv5769333, essv5982315, essv6057963, essv6220486, essv5634824, essv5584985, essv5695626, essv5425784, essv6365657, essv5451237, essv6009149, essv5963367, essv5917758, essv6274643, essv5572401, essv5759831, essv6138692, essv5609738, essv6088667, essv6559882
SamplesHG01357, HG01441, HG01440, HG01250, HG01353, HG01342, HG01389, HG01365, HG01492, HG01488, HG01491, HG01350, HG01461, HG01134, HG01551, HG01550, HG01148, HG01384, HG01140, HG01456, HG01375, HG01378, HG01495, HG01124, HG01360, HG01113, HG01136, HG01497, HG01465, HG01455, HG01356, HG01351, HG01494, HG01383, HG01149, HG01137, HG01112, HG01366, HG01251, HG01125, HG01498, HG01374, HG01462, HG01377, HG01354
Known GenesHLA-DQB1
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675542
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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