A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737291



Internal ID9971628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91140619..91140954hg38UCSC Ensembl
Outerchr8:92152847..92153182hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6712472, essv6908270, essv6684571, essv6720105, essv6827084, essv6958192, essv6931175, essv6677214, essv6672153, essv6861647, essv6850221, essv6887538, essv6911994, essv6791223, essv6881902, essv6866385, essv6818985, essv6976015, essv6683488, essv6894116, essv6964798, essv6860898, essv6799580, essv6923694, essv6856248, essv6838058
SamplesSSM083, SSM027, SSM011, SSM087, SSM042, SSM088, SSM018, SSM029, SSM096, SSM026, SSM089, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM072, SSM020, SSM015, SSM078, SSM005, SSM080, SSM070, SSM034, SSM098
Known GenesLRRC69
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)esv2737291
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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