A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747397



Internal ID9981681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:40642745..40642911hg38UCSC Ensembl
Outerchr1:41108417..41108583hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941816, essv6883269, essv6863984, essv6843998, essv6906115, essv6877682
SamplesSSM011, SSM093, SSM023, SSM089, SSM014, SSM095
Known GenesRIMS3
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)esv2747397
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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