A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743908



Internal ID9978192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12838164..12838507hg38UCSC Ensembl
Outerchr1:12898017..12898360hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847008, essv6669166, essv6910037, essv6843798, essv6863951, essv6917420, essv6807370
SamplesSSM075, SSM011, SSM089, SSM017, SSM086, SSM015, SSM005
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)esv2743908
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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