A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724906



Internal ID9959208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11057372..11058097hg38UCSC Ensembl
Outerchr3:11099058..11099783hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38726
hg19726
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896202, essv6788855, essv6954417, essv6840481, essv6748161, essv6926121, essv6875101, essv6745313, essv6753298, essv6820376, essv6770059, essv6880791, essv6793836, essv6829478, essv6922280, essv6730102, essv6910580, essv6951093, essv6859812, essv6854029
SamplesSSM008, SSM071, SSM065, SSM087, SSM009, SSM088, SSM092, SSM084, SSM047, SSM018, SSM019, SSM094, SSM081, SSM015, SSM010, SSM055, SSM025, SSM004, SSM099, SSM056
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)esv2724906
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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