A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737908



Internal ID10321544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142520143..142520607hg38UCSC Ensembl
Outerchr8:143601504..143601968hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952667, essv6904413, essv6691135, essv6791280, essv6799644, essv6684627, essv6787179, essv6927455, essv6866459, essv6850324, essv6823100, essv6931247, essv6894173, essv6727808, essv6900236, essv6672252, essv6908330, essv6866460, essv6887586, essv6716233, essv6861353
SamplesSSM100, SSM036, SSM046, SSM011, SSM079, SSM013, SSM069, SSM096, SSM089, SSM019, SSM031, SSM014, SSM086, SSM072, SSM020, SSM070, SSM025, SSM034, SSM043, SSM098
Known GenesBAI1
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)esv2737908
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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