A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718792



Internal ID9953084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52613456..52613982hg38UCSC Ensembl
Outerchr19:53116709..53117235hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6967541, essv6717893, essv6784693, essv6801349, essv6832327, essv6892118, essv6868455, essv6756378, essv6921416, essv6782077, essv6971979, essv6941482, essv6883089, essv6788859, essv6925409, essv6692496, essv6913721, essv6843580, essv6954409, essv6792981, essv6741940, essv6807181, essv6885799, essv6707069, essv6797161, essv6874483, essv6667254, essv6852852, essv6725548, essv6946184
SamplesSSM036, SSM008, SSM071, SSM027, SSM045, SSM097, SSM074, SSM023, SSM058, SSM028, SSM084, SSM018, SSM069, SSM089, SSM017, SSM094, SSM086, SSM068, SSM081, SSM040, SSM072, SSM015, SSM022, SSM091, SSM070, SSM095, SSM025, SSM004, SSM043, SSM052
Known GenesZNF83
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)esv2718792
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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