A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718602



Internal ID9952894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42921098..43094479hg38UCSC Ensembl
Outerchr19:43425250..43598631hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38173382
hg19173382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682582, essv6729347, essv6941460, essv6792952, essv6707049, essv6917154, essv6717253, essv6667066, essv6877458, essv6812973, essv6725529, essv6784678, essv6917155, essv6674825, essv6801337, essv6717870, essv6781787, essv6892107, essv6792951, essv6846746, essv6753321, essv6692477, essv6852827, essv6674824, essv6863634, essv6917156, essv6868437, essv6905861, essv6703574, essv6781798, essv6843560, essv6717242, essv6925381, essv6741921, essv6885790, essv6703575, essv6814621, essv6792957, essv6839677, essv6703573, essv6703572, essv6753322, essv6753319, essv6852828, essv6758884, essv6769291, essv6828744, essv6928808, essv6921384, essv6816339, essv6744741, essv6725528, essv6667088, essv6814610, essv6921383, essv6874467, essv6874466, essv6921386, essv6846747
SamplesSSM059, SSM036, SSM008, SSM083, SSM045, SSM046, SSM064, SSM097, SSM039, SSM013, SSM009, SSM088, SSM057, SSM092, SSM084, SSM018, SSM089, SSM017, SSM019, SSM031, SSM086, SSM033, SSM006, SSM085, SSM068, SSM040, SSM072, SSM016, SSM053, SSM080, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM004, SSM043, SSM052
Known GenesPSG11, PSG2, PSG7
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2718602
Frequency
Sample Size96
Observed Gain0
Observed Loss39
Observed Complex0
Frequencyn/a


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