A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737557



Internal ID9971896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:126236640..126237123hg38UCSC Ensembl
Outerchr8:127248884..127249367hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6890803, essv6701839, essv6787155, essv6884718, essv6827124, essv6775192, essv6766965, essv6919575, essv6830791, essv6801365, essv6927431, essv6691112, essv6948486, essv6923723, essv6935466, essv6803083, essv6876244, essv6887568, essv6683687, essv6830887, essv6850279, essv6799611, essv6734155, essv6791250, essv6870324, essv6944266, essv6723934, essv6900215, essv6734818, essv6778887, essv6861696, essv6814955, essv6845513
SamplesSSM100, SSM036, SSM008, SSM024, SSM045, SSM097, SSM039, SSM009, SSM073, SSM088, SSM023, SSM092, SSM090, SSM021, SSM018, SSM069, SSM096, SSM017, SSM019, SSM067, SSM086, SSM066, SSM085, SSM081, SSM072, SSM007, SSM005, SSM080, SSM077, SSM010, SSM070, SSM095, SSM049
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)esv2737557
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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