A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734990



Internal ID9969320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107769874..107770414hg38UCSC Ensembl
Outerchr7:107410319..107410859hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762830, essv6690768, essv6841558, essv6873036, essv6818619, essv6712156, essv6805713, essv6760286, essv6828364, essv6911649, essv6771135, essv6782530, essv6743391, essv6931562, essv6746171, essv6890632, essv6778539
SamplesSSM010, SSM065, SSM053, SSM036, SSM055, SSM091, SSM084, SSM061, SSM042, SSM078, SSM067, SSM062, SSM012, SSM003, SSM068, SSM074, SSM015
Known GenesSLC26A3
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)esv2734990
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer