A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647366



Internal ID6687421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:22432489..22905103hg38UCSC Ensembl
Innerchr22:22432489..22905103hg38UCSC Ensembl
Outerchr22:22432308..22905427hg38UCSC Ensembl
chr22:22786827..23247283hg19UCSC Ensembl
Innerchr22:22786827..23247283hg19UCSC Ensembl
Outerchr22:22786646..23247597hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38472615
hg19460457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv826e214
Supporting Variantsessv16375164, essv16375169, essv16375154, essv16375148, essv16375171, essv16375143, essv16375188, essv16375134, essv16375185, essv16375173, essv16375156, essv16375181, essv16375187, essv16375184, essv16375163, essv16375168, essv16375147, essv16375150, essv16375174, essv16375161, essv16375162, essv16375170, essv16375195, essv16375182, essv16375146, essv16375149, essv16375186, essv16375160, essv16375157, essv16375177, essv16375191, essv16375194, essv16375189, essv16375140, essv16375183, essv16375130, essv16375192, essv16375197, essv16375135, essv16375144, essv16375166, essv16375178, essv16375175, essv16375145, essv16375165, essv16375152, essv16375179, essv16375133, essv16375153, essv16375151, essv16375138, essv16375193, essv16375176, essv16375131, essv16375159, essv16375155, essv16375132, essv16375139, essv16375158, essv16375196, essv16375167, essv16375190, essv16375180, essv16375136, essv16375142, essv16375141, essv16375137, essv16375172
SamplesNA12383, NA11829, NA19204, HG03057, HG02798, NA19819, HG00452, NA12340, HG02394, HG01947, NA18526, NA07357, HG00622, HG02860, NA19054, HG01510, HG02111, NA19038, NA19922, NA12005, NA19720, HG00335, HG01275, HG00365, NA20535, NA12342, HG00428, NA19347, HG03547, NA20767, HG04180, HG02221, HG01390, HG03382, NA19042, HG00684, HG02141, NA12827, HG01679, NA06985, NA18523, NA18945, NA18646, HG03028, NA18535, HG03240, NA19834, HG00353, NA12873, NA20797, NA18610, HG01086, NA06994, HG01804, HG01028, NA18873, NA18972, NA20503, HG03445, HG02947, HG01431, NA20585, HG03439, NA21120, NA20772, NA19676, NA20511, NA18997
Known GenesGGTLC2, IGLL5, LOC648691, MIR650, POM121L1P, PRAME, ZNF280A, ZNF280B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647366
Frequency
Sample Size2504
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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