A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727952



Internal ID10311588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:88601713..88602085hg38UCSC Ensembl
Outerchr4:89522864..89523236hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38373
hg19373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6805073, essv6748394, essv6907002, essv6973931, essv6942832, essv6903305, essv6825915, essv6676067, essv6679987, essv6883872, essv6934210, essv6844562, essv6756253, essv6711426, essv6813922, essv6781760, essv6869362, essv6770358, essv6833372, essv6860241, essv6802230, essv6704594, essv6700537, essv6693706, essv6865032, essv6690027, essv6754156, essv6956213, essv6757079, essv6726685, essv6893080, essv6810942, essv6872379, essv6899312, essv6767170, essv6938527, essv6878267, essv6947369
SamplesSSM100, SSM059, SSM036, SSM008, SSM024, SSM046, SSM064, SSM065, SSM039, SSM013, SSM073, SSM093, SSM074, SSM042, SSM088, SSM023, SSM058, SSM090, SSM021, SSM029, SSM026, SSM089, SSM032, SSM014, SSM033, SSM085, SSM068, SSM040, SSM082, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM095, SSM098, SSM056
Known GenesHERC3
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)esv2727952
Frequency
Sample Size96
Observed Gain0
Observed Loss38
Observed Complex0
Frequencyn/a


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