A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv138e199



Internal ID18982192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50101985..50241032hg38UCSC Ensembl
chr10:51861745..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 Variants
Supporting Variantsesv2663690, esv2667681
SamplesHG00323, HG01357, HG01441, HG00309, HG00313, HG01359, HG00318, HG01440, HG00182, HG01250, HG00344, HG01353, HG00328, HG01342, HG00171, HG00369, HG00274, HG00186, HG00310, HG01389, HG01365, HG00189, HG01492, HG01488, HG00375, HG00368, HG00173, HG00326, HG01491, HG00270, HG01350, HG00190, HG00334, HG00187, HG01461, HG00280, HG00335, HG01134, HG00366, HG00177, HG00331, HG00319, HG01551, HG00188, HG00353, HG00269, HG00342, HG00266, HG01254, HG00321, HG00339, HG01550, HG01148, HG00346, HG01384, HG00179, HG01140, HG01456, HG01375, HG00337, HG01378, HG00180, HG00372, HG01495, HG01124, HG00315, HG00330, HG00338, HG00178, HG01360, HG01113, HG01136, HG01253, HG00174, HG00276, HG00284, HG00357, HG00343, HG01497, HG00306, HG00373, HG00267, HG01437, HG01465, HG00268, HG00325, HG00185, HG01455, HG00176, HG00273, HG00282, HG01356, HG00277, HG01351, HG01494, HG00329, HG01383, HG00377, HG01149, HG01137, HG00181, HG01112, HG00311, HG01390, HG00281, HG00285, HG01366, HG01251, HG00367, HG01125, HG00320, HG01498, HG00275, HG00324, HG00183, HG01374, HG01462, HG01489, HG01377, HG00336, HG00272, HG00345, HG00271, HG00278, HG01354, HG00312, HG00327, HG00361
Known GenesASAH2, FAM21A, FAM21B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv138e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss128
Observed Complex0
Frequencyn/a


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