A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv138e199

Internal ID20123440
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50101985..50241032hg38UCSC Ensembl
chr10:51861745..52000792hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv138e199
Sample Size1151
Observed Gain0
Observed Loss128
Observed Complex0

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