A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737907



Internal ID10321543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142519698..142520860hg38UCSC Ensembl
Outerchr8:143601059..143602221hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381163
hg191163
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919605, essv6701863, essv6894288, essv6952667, essv6879114, essv6923745, essv6904413, essv6884738, essv6691135, essv6791280, essv6799644, essv6684627, essv6787179, essv6805978, essv6927455, essv6866459, essv6850324, essv6778915, essv6801587, essv6935515, essv6823100, essv6931247, essv6894173, essv6823101, essv6838112, essv6831109, essv6723963, essv6767231, essv6782972, essv6881949, essv6727808, essv6900236, essv6672252, essv6737494, essv6908330, essv6976127, essv6866460, essv6897251, essv6712524, essv6964891, essv6887586, essv6716233, essv6861727, essv6861353
SamplesSSM100, SSM036, SSM008, SSM083, SSM027, SSM045, SSM046, SSM011, SSM079, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM088, SSM021, SSM018, SSM069, SSM029, SSM096, SSM089, SSM017, SSM019, SSM094, SSM031, SSM067, SSM014, SSM086, SSM068, SSM072, SSM020, SSM010, SSM070, SSM095, SSM025, SSM034, SSM099, SSM043, SSM098, SSM012
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)esv2737907
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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