A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725205



Internal ID9959509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42989608..42989926hg38UCSC Ensembl
Outerchr3:43031100..43031418hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955701, essv6793859, essv6942439, essv6880818, essv6817228, essv6848676, essv6777469, essv6886377, essv6821696, essv6825579, essv6847901, essv6962442, essv6859859, essv6711128, essv6807812, essv6973397, essv6810720, essv6854073, essv6686591, essv6683294, essv6669857, essv6726379, essv6906687, essv6864648
SamplesSSM027, SSM086, SSM042, SSM078, SSM088, SSM089, SSM031, SSM035, SSM071, SSM067, SSM094, SSM011, SSM029, SSM034, SSM087, SSM046, SSM096, SSM023, SSM079, SSM075, SSM026, SSM014, SSM076, SSM080
Known GenesFAM198A
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)esv2725205
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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