A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747497



Internal ID10328467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41635162..41635922hg38UCSC Ensembl
Outerchr1:42100833..42101593hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38761
hg19761
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766571, essv6917470, essv6929098, essv6744964, essv6843918, essv6722027, essv6753521, essv6679200, essv6776962, essv6742163, essv6844009, essv6910078, essv6954786, essv6682845, essv6967966, essv6941819, essv6937709, essv6789184, essv6925716, essv6916996, essv6773463, essv6759075, essv6735993, essv6921752, essv6738833, essv6780905, essv6950593, essv6748743, essv6961600, essv6950473, essv6892341, essv6902566, essv6847057, essv6877120, essv6692804
SamplesSSM008, SSM027, SSM045, SSM011, SSM064, SSM013, SSM050, SSM023, SSM058, SSM028, SSM018, SSM061, SSM026, SSM017, SSM019, SSM003, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM020, SSM015, SSM053, SSM037, SSM022, SSM055, SSM070, SSM025, SSM034, SSM004, SSM052, SSM098, SSM012
Known GenesHIVEP3
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)esv2747497
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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