A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675542



Internal ID9941647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32662439..32665945hg38UCSC Ensembl
Outerchr6:32662068..32666315hg38UCSC Ensembl
Innerchr6:32630216..32633722hg19UCSC Ensembl
Outerchr6:32629845..32634092hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459877, essv6318136, essv6388350, essv6559882, essv6506360, essv5425784, essv6162523, essv6143839, essv6220486, essv5617501, essv6057963, essv5917758, essv6050435, essv6285802, essv5609738, essv6009149, essv5448847, essv5451237, essv5683785, essv5634824, essv5982315, essv5572401, essv5584985, essv5521099, essv5500357, essv6209476, essv5840365, essv5853162, essv6088667, essv5695626, essv6392610, essv5872638, essv5769333, essv5913482, essv5759831, essv6365657, essv6170064, essv6306327, essv5805698, essv6138692, essv5963367, essv5926708, essv5698561, essv6530920, essv6274643
SamplesHG01441, HG01356, HG01462, HG01389, HG01374, HG01465, HG01456, HG01461, HG01140, HG01250, HG01350, HG01366, HG01351, HG01488, HG01492, HG01354, HG01365, HG01134, HG01455, HG01495, HG01440, HG01550, HG01124, HG01353, HG01136, HG01360, HG01384, HG01498, HG01149, HG01383, HG01497, HG01148, HG01551, HG01357, HG01375, HG01494, HG01113, HG01137, HG01342, HG01491, HG01251, HG01377, HG01378, HG01125, HG01112
Known GenesHLA-DQB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675542
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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