A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667681



Internal ID9587100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50102356..50240662hg38UCSC Ensembl
Outerchr10:50101985..50241032hg38UCSC Ensembl
Innerchr10:51862116..52000422hg19UCSC Ensembl
Outerchr10:51861745..52000792hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38139048
hg19139048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv138e199
Supporting Variantsessv5722418, essv5929661, essv5631011, essv5437645, essv5498280, essv6578461, essv5674401, essv6459143, essv6162336, essv5566017, essv5929172, essv5653297, essv6417088, essv5906024, essv6476355, essv6381716, essv6361673, essv5869161, essv5911599, essv6103635, essv6001680, essv5419921, essv6332484, essv6145172, essv5968923, essv6120825, essv5878479, essv5439433, essv5718907, essv5773003, essv5434726, essv5692458, essv5978801, essv5867341, essv5571940, essv5574913, essv6592155, essv6546869, essv5472932, essv6254354, essv6047817, essv5418759, essv6439246, essv6000728, essv6279055, essv5803608, essv6368653, essv6294161, essv5484626, essv5616453, essv5766616, essv5776179, essv5498559, essv5796545, essv6409268, essv5641786, essv5643103, essv6335392, essv5880351, essv5433224, essv5887707, essv6476743, essv6139422, essv6288923, essv5762552, essv6270795, essv6066788, essv6461163, essv6162736, essv5552967, essv6468789, essv5928180, essv5664319, essv5658182, essv5486104, essv5428468, essv6378410
SamplesHG00189, HG00361, HG00187, HG00315, HG00306, HG00367, HG00318, HG00181, HG00179, HG00177, HG00337, HG00327, HG00271, HG00272, HG00173, HG00330, HG00346, HG00369, HG00270, HG00334, HG00185, HG00311, HG00281, HG00277, HG00335, HG00325, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00366, HG00353, HG00375, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00267, HG00174, HG00310, HG00186, HG00280, HG00343, HG00377, HG00372, HG00274, HG00171, HG00345, HG00180
Known GenesASAH2, FAM21A, FAM21B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667681
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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