A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1269e199



Internal ID22759042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11929494..12035333hg38UCSC Ensembl
chr8:11787003..11892842hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38105840
hg19105840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663596, esv2667080, esv2673193, esv2670382, esv2666283
SamplesHG00626, HG01060, HG01441, HG01173, HG00592, NA19397, HG01462, HG00671, HG00242, HG01359, HG01052, NA18565, HG01389, HG00315, HG00737, HG00449, NA12155, NA18602, HG01140, HG00693, HG00327, HG00663, NA19068, NA19660, HG00501, HG00448, NA18567, NA18618, HG00736, HG00610, HG01354, HG00247, NA19054, HG00334, HG00359, HG01069, HG01067, HG00683, HG00335, HG00148, HG00262, NA19719, HG01072, NA18560, HG00534, HG00422, HG00705, HG00160, HG00338, HG00178, HG00530, NA18539, NA18614, HG00154, HG00560, NA18613, NA19657, HG00443, HG00266, HG00176, NA19056, HG00596, HG00328, HG00245, HG00657, NA20536, NA19717, NA19663, HG00584, HG00583, NA18534, HG00692, HG01390, HG01102, HG01073, HG00250, NA19084, NA19655, NA18626, HG00690, HG00404, HG00331, HG00684, HG01101, NA18553, NA19059, HG01334, HG00146, HG00704, HG00463, NA18634, HG01107, NA18541, HG01204, NA18953, NA19003, HG00124, HG00383, NA18535, HG01190, NA18559, HG00565, NA12272, HG00734, HG00278, HG01174, NA19334, HG00237, NA19311, HG00319, HG01108, HG00662, HG00620, HG00269, HG00707, HG00672, HG00111, HG00578, HG00478, NA19779, HG00421, HG00378, HG00329, NA19716, HG00267, HG01055, NA20510, NA19770, HG00280, NA19726, NA18983, HG01082, HG00628, NA18624, NA19074
Known GenesDEFB134, DEFB135, DEFB136
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1269e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss135
Observed Complex0
Frequencyn/a


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