A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721759



Internal ID10305395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238295674..238297271hg38UCSC Ensembl
Outerchr2:239204315..239205912hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859708, essv6669754, essv6733802, essv6962343, essv6756867, essv6880943, essv6766883, essv6817166, essv6777407, essv6922244, essv6793794, essv6753884, essv6679642, essv6714707, essv6742506, essv6698688, essv6844278, essv6859779, essv6817164, essv6968470, essv6669756, essv6748138, essv6736354, essv6789661, essv6962342, essv6886327, essv6955585, essv6707686, essv6788611, essv6711052, essv6896178, essv6864561, essv6750966, essv6829931, essv6902981, essv6875082, essv6770017, essv6829446, essv6722443, essv6955584, essv6762128, essv6910542, essv6853977, essv6973263, essv6864562, essv6859780, essv6878007
SamplesSSM059, SSM071, SSM027, SSM064, SSM065, SSM087, SSM013, SSM009, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM058, SSM028, SSM092, SSM018, SSM029, SSM096, SSM062, SSM026, SSM089, SSM031, SSM067, SSM001, SSM033, SSM006, SSM085, SSM081, SSM007, SSM015, SSM078, SSM053, SSM070, SSM099, SSM043, SSM049, SSM056, SSM012
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)esv2721759
Frequency
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0
Frequencyn/a


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