A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725253



Internal ID10308889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:49160328..49160654hg38UCSC Ensembl
Outerchr3:49197761..49198087hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896226, essv6955714, essv6781460, essv6844344, essv6889494, essv6748182, essv6864654, essv6686595, essv6933890, essv6903037, essv6669864, essv6697383, essv6836702, essv6917997, essv6854082, essv6899052, essv6921518, essv6689749, essv6968550, essv6683302, essv6793867, essv6817235, essv6730137, essv6880824, essv6785596, essv6875125, essv6722533, essv6762170, essv6973408, essv6766944, essv6675738, essv6847911, essv6821703, essv6840512, essv6798041, essv6906692, essv6700223, essv6947065, essv6962448, essv6753675, essv6848710, essv6829511, essv6892805, essv6810725, essv6718664
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM064, SSM079, SSM087, SSM038, SSM097, SSM039, SSM013, SSM028, SSM092, SSM084, SSM021, SSM047, SSM069, SSM029, SSM062, SSM026, SSM089, SSM017, SSM035, SSM094, SSM032, SSM003, SSM031, SSM044, SSM014, SSM086, SSM085, SSM068, SSM081, SSM072, SSM078, SSM076, SSM034, SSM099, SSM098, SSM056
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)esv2725253
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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