A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv552e199



Internal ID22758325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41083029..41108356hg38UCSC Ensembl
chr17:39239281..39264608hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825328
hg1925328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2670286, esv2676411, esv2678143
SamplesHG01441, NA19703, NA18924, NA19664, HG00361, HG00242, HG01079, HG01389, HG01066, NA20512, HG00640, HG01465, HG01518, NA20517, NA20507, NA20771, NA20806, HG00693, HG00337, HG00271, HG01250, NA19379, HG01366, HG01351, HG01177, NA19678, NA19198, HG01492, NA07347, NA19904, HG00311, NA20759, HG00277, HG01455, NA19720, HG01067, HG00106, HG01170, HG00325, HG00262, HG00705, HG01440, HG00159, HG01048, NA18867, NA20755, NA19247, HG00731, HG01171, HG00328, NA19077, HG00732, NA20521, NA20506, NA18630, HG00551, HG00619, HG00239, HG01047, NA20525, HG00373, NA12829, HG00157, HG00152, NA18963, HG00141, NA20542, NA20534, HG00258, HG00119, NA20530, HG01113, HG01137, NA12763, HG00339, HG00707, NA19223, HG00186, NA19770, NA11843, NA19900, NA20502, NA18612, NA19074, HG01437, HG01061
Known GenesKRTAP4-7, KRTAP4-8, KRTAP4-9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv552e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss86
Observed Complex0
Frequencyn/a


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