A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750018



Internal ID10330988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:76302512..76303340hg38UCSC Ensembl
Outerchr1:76768197..76769025hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38829
hg19829
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840026, essv6853319, essv6972454, essv6750648, essv6749054, essv6759097, essv6925744, essv6933358, essv6914043
SamplesSSM008, SSM087, SSM057, SSM084, SSM021, SSM061, SSM029, SSM019, SSM016
Known GenesST6GALNAC3
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)esv2750018
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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