A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737941



Internal ID10321577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142976483..142977247hg38UCSC Ensembl
Outerchr8:144057900..144058664hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38765
hg19765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731578, essv6771537, essv6709056, essv6795471, essv6912047, essv6716235, essv6967063, essv6919609, essv6904414, essv6782975, essv6672259, essv6705725, essv6775217, essv6970181, essv6927457, essv6778919, essv6694962, essv6691138, essv6964893
SamplesSSM036, SSM071, SSM027, SSM065, SSM013, SSM041, SSM028, SSM047, SSM017, SSM019, SSM031, SSM067, SSM066, SSM068, SSM040, SSM015, SSM037, SSM004, 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)esv2737941
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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