A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723128



Internal ID10306764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220048165..220051106hg38UCSC Ensembl
Outerchr1:220221507..220224448hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670543, essv6733614, essv6679340, essv6726015, essv6682974, essv6813309, essv6745077
SamplesSSM046, SSM033, SSM005, SSM077, SSM055, SSM034, SSM049
Known GenesRNU5F-1
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)esv2723128
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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