A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1043e199



Internal ID20124345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140842260..140861207hg38UCSC Ensembl
chr5:140221845..140240792hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3818948
hg1918948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663985, esv2674282
SamplesNA19394, NA18502, HG01356, HG01462, NA20766, HG00249, NA19466, NA18861, NA10851, HG00187, HG00315, NA20813, HG00367, NA19359, HG01465, NA19777, HG01140, NA19396, NA19381, HG01350, NA19005, HG01070, HG00272, NA19315, HG01177, NA12287, HG00247, HG00369, HG00311, HG00139, NA12282, NA19720, HG00335, NA18560, NA19235, NA19172, HG00160, NA18990, NA18520, NA18557, NA19445, HG00253, HG00313, HG01136, NA12489, HG00268, HG00245, HG00190, NA19327, HG00320, HG00344, NA18637, HG01498, HG00708, NA11919, NA12829, NA11894, NA19453, HG00117, HG01101, NA12827, HG01497, NA19099, NA19059, NA19469, NA19318, NA12778, NA20296, HG00258, NA12716, NA19834, HG00357, HG00308, NA20778, HG01494, NA19439, NA20504, HG01137, NA19083, NA20281, NA07037, NA18610, NA12347, HG00111, HG00329, NA12749, HG01254, HG01055, NA18609, HG00310, NA20786, NA20528, HG00377, NA20503, HG01377, NA20502, NA19463, NA18511, NA19065
Known GenesPCDHA1, PCDHA10, 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)dgv1043e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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