A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715407



Internal ID10299043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:100922978..100923320hg38UCSC Ensembl
Outerchr1:101388534..101388876hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682892, essv6722068, essv6710656, essv6785073, essv6868774, essv6906175, essv6941865, essv6937749, essv6729696, essv6880479, essv6817287, essv6825057, essv6725924, essv6766605, essv6886039
SamplesSSM045, SSM046, SSM064, SSM042, SSM023, SSM090, SSM047, SSM069, SSM096, SSM094, SSM014, SSM080, SSM022, SSM010, SSM034
Known GenesSLC30A7
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)esv2715407
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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