A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737844



Internal ID10321480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142203117..142203921hg38UCSC Ensembl
Outerchr8:143284478..143285282hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38805
hg19805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230e201
Supporting Variantsessv6964880, essv6667943, essv6827144, essv6814974, essv6795456, essv6672247, essv6799636, essv6919599, essv6709047, essv6767165, essv6823093, essv6791274, essv6778909, essv6775214, essv6838104, essv6727804, essv6935505, essv6830810, essv6716228, essv6684623, essv6731570, essv6944291, essv6952663, essv6712518, essv6701857, essv6939775, essv6841923, essv6970175, essv6850316, essv6912042, essv6723960, essv6931241, essv6958292, essv6923742
SamplesSSM008, SSM083, SSM071, SSM027, SSM045, SSM046, SSM079, SSM039, SSM042, SSM041, SSM023, SSM028, SSM084, SSM021, SSM047, SSM018, SSM026, SSM017, SSM031, SSM067, SSM086, SSM066, SSM081, SSM072, SSM020, SSM015, SSM080, SSM077, SSM022, SSM070, SSM025, SSM034, SSM043, SSM030
Known GenesLINC00051
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)esv2737844
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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