A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714696



Internal ID9948980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:91159225..91159519hg38UCSC Ensembl
Outerchr1:91624782..91625076hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859272, essv6898662, essv6807434, essv6836254, essv6718221, essv6829071, essv6864040, essv6847128, essv6877715, essv6669068, essv6853341, essv6972475, essv6906166, essv6816671, essv6682883, essv6954857, essv6703913, essv6889069, essv6886036, essv6961669
SamplesSSM100, SSM083, SSM027, SSM075, SSM087, SSM097, SSM093, SSM088, SSM029, SSM096, SSM026, SSM089, SSM031, SSM044, SSM014, SSM086, SSM081, SSM040, SSM078, SSM034
Known Genes
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)esv2714696
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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