A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732879



Internal ID9967201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150013928..150037181hg38UCSC Ensembl
Outerchr6:150335064..150358317hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3823254
hg1923254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798975, essv6943552, essv6939124, essv6671279, essv6743262, essv6730979, essv6887102, essv6811418, essv6818378, essv6963903, essv6918944, essv6723336, essv6875827, essv6845056, essv6705140, essv6708535, essv6898153, essv6930556, essv6903817, essv6748838, essv6833875, essv6837540, essv6802659, essv6911453, essv6872861
SamplesSSM083, SSM027, SSM045, SSM013, SSM073, SSM002, SSM041, SSM023, SSM092, SSM047, SSM096, SSM017, SSM031, SSM085, SSM040, SSM072, SSM082, SSM020, SSM015, SSM078, SSM053, SSM076, SSM022, SSM091, SSM056
Known GenesRAET1L
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)esv2732879
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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