A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726900



Internal ID10310536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3508557..3510019hg38UCSC Ensembl
Outerchr4:3510284..3511746hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381463
hg191463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762273, essv6711293, essv6686741, essv6707894, essv6759581, essv6751157, essv6860075, essv6880961, essv6848183, essv6794064, essv6813804, essv6962727, essv6845931, essv6764634, essv6785790, essv6686740, essv6670140, essv6906861, essv6817446, essv6973714, essv6955999, essv6892958, essv6955998, essv6700121, essv6864854, essv6854344
SamplesSSM071, SSM027, SSM087, SSM042, SSM088, SSM002, SSM041, SSM057, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM086, SSM006, SSM078, SSM077, SSM098, SSM063
Known GenesLRPAP1
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)esv2726900
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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