A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1044e199



Internal ID20124346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140843360..140849907hg38UCSC Ensembl
chr5:140222945..140229492hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386548
hg196548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2673132, esv2668258, esv2672766
SamplesNA19394, NA20766, NA19466, NA10851, NA11920, NA20816, NA20813, NA19359, NA19393, NA19443, NA12341, NA18563, NA19396, NA19381, NA19319, NA19315, NA18597, NA18635, NA12287, NA12282, NA20819, NA18560, NA19471, NA18557, NA19445, NA20535, NA12489, NA19327, NA19455, NA18637, NA11919, NA12829, NA11894, NA19453, NA12827, NA19469, NA19318, NA12778, NA12716, NA19444, NA20778, NA19439, NA20504, NA19467, NA20516, NA07037, NA18610, NA12347, NA19328, NA12749, NA19468, NA18609, NA20786, NA20528, NA20503, NA20502, NA07056, NA19463, NA20585, NA12154, NA12776, NA11832
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1044e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss62
Observed Complex0
Frequencyn/a


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