A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745035



Internal ID9979319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106725131..106725435hg38UCSC Ensembl
Outerchr11:106595857..106596161hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698703, essv6865042, essv6862295, essv6842359, essv6732054, essv6944851, essv6904847, essv6809312, essv6834321, essv6965668, essv6779390, essv6685016, essv6815405, essv6724426, essv6891213, essv6812171, essv6795959, essv6959145, essv6857086, essv6673047
SamplesSSM071, SSM027, SSM075, SSM045, SSM011, SSM087, SSM038, SSM097, SSM013, SSM088, SSM023, SSM084, SSM047, SSM026, SSM031, SSM067, SSM077, SSM076, SSM010, SSM034
Known GenesGUCY1A2
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)esv2745035
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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