A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716786



Internal ID9951075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10461975..10463011hg38UCSC Ensembl
Outerchr18:10461972..10463008hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg381037
hg191037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761500, essv6766931, essv6967055, essv6820565, essv6905632, essv6941183, essv6747370, essv6692354, essv6932713, essv6898192, essv6928582, essv6840031, essv6949908, essv6788569, essv6868094, essv6877251, essv6913340, essv6732930, essv6741704, essv6960591, essv6977439, essv6665996
SamplesSSM010, SSM022, SSM027, SSM092, SSM013, SSM055, SSM061, SSM099, SSM078, SSM089, SSM020, SSM001, SSM024, SSM005, SSM029, SSM047, SSM069, SSM002, SSM019, SSM052, SSM004, SSM026
Known GenesAPCDD1
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)esv2716786
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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