A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734998



Internal ID10318634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:108043107..108043982hg38UCSC Ensembl
Outerchr7:107683552..107684427hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746172, essv6865997, essv6975377, essv6760288, essv6671628, essv6763720, essv6740279
SamplesSSM008, SSM061, SSM029, SSM089, SSM031, SSM055, SSM052
Known GenesLAMB4
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)esv2734998
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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