A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672407



Internal ID9938512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32659339..32665445hg38UCSC Ensembl
Outerchr6:32658968..32665815hg38UCSC Ensembl
Innerchr6:32627116..32633222hg19UCSC Ensembl
Outerchr6:32626745..32633592hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg386848
hg196848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1111e199
Supporting Variantsessv6587413, essv5701415, essv5565818, essv5825258, essv5695653, essv6577111, essv6310727, essv6275519, essv6064986, essv5640839, essv5855230, essv5478256, essv5753764, essv6132327, essv6362371, essv5632492, essv5803437, essv6013573, essv5546127, essv5489334, essv5562813, essv6023285, essv6263005, essv6197158, essv6276722, essv6076381, essv5706589, essv5859549, essv5805141, essv6501259, essv5790944, essv5707731, essv5791470, essv5444716, essv5604041, essv6235201, essv5713239, essv5467553, essv5876742, essv5928810, essv5643377, essv5775243, essv6203398
SamplesHG00189, HG00315, HG00306, HG00367, HG00318, HG00177, HG00327, HG00173, HG00330, HG00270, HG00334, HG00325, HG00326, HG00178, HG00188, HG00266, HG00183, HG00328, HG00190, HG00368, HG00320, HG00324, HG00284, HG00273, HG00331, HG00321, HG00276, HG00285, HG00366, HG00375, HG00357, HG00278, HG00339, HG00312, HG00342, HG00267, HG00174, HG00186, HG00280, HG00274, HG00171, HG00345, HG00180
Known GenesHLA-DQB1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672407
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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