A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737069



Internal ID10320705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61033250..61033700hg38UCSC Ensembl
Outerchr8:61945809..61946259hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775156, essv6861617, essv6814902, essv6681018, essv6944204, essv6948435, essv6939690, essv6716172, essv6752107, essv6684557, essv6964755, essv6908248, essv6830755, essv6873251, essv6691071, essv6850182, essv6818955, essv6975981, essv6970099, essv6811783, essv6782900, essv6677190, essv6866360, essv6856217, essv6890753, essv6919533, essv6935420, essv6860709, essv6904719, essv6904341, essv6931159, essv6672118, essv6952590, essv6838038, essv6879063
SamplesSSM036, SSM083, SSM027, SSM024, SSM011, SSM087, SSM097, SSM013, SSM093, SSM088, SSM002, SSM057, SSM023, SSM028, SSM021, SSM029, SSM089, SSM017, SSM032, SSM031, SSM014, SSM086, SSM033, SSM066, SSM068, SSM081, SSM020, SSM078, SSM077, SSM076, SSM022, SSM091, SSM025, SSM034, SSM043
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)esv2737069
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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