A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735144



Internal ID9969474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128669114..128669499hg38UCSC Ensembl
Outerchr7:128309168..128309553hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911666, essv6701466, essv6684307, essv6855750, essv6786770, essv6690782, essv6837774, essv6969765, essv6676916, essv6866017, essv6808693, essv6948160, essv6858176, essv6939377, essv6964287, essv6731220, essv6834104, essv6795022, essv6875996, essv6893855, essv6719778, essv6712170, essv6861301, essv6845232, essv6731212, essv6830501, essv6746183, essv6841570, essv6943827, essv6805729, essv6708726, essv6915361, essv6705351, essv6822769, essv6975408, essv6811588, essv6694574, essv6671653, essv6818642, essv6826759, essv6802828, essv6881685, essv6799230, essv6890710, essv6897014, essv6849688, essv6687552, essv6899981, essv6814639, essv6923404
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM087, SSM039, SSM073, SSM074, SSM042, SSM088, SSM041, SSM023, SSM028, SSM092, SSM084, SSM047, SSM018, SSM069, SSM029, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM086, SSM085, SSM081, SSM040, SSM072, SSM082, SSM007, SSM015, SSM078, SSM016, SSM080, SSM037, SSM077, SSM076, SSM022, SSM055, SSM034, SSM099, SSM098, 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)esv2735144
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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