A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731435



Internal ID10315071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1514953..1515701hg38UCSC Ensembl
Outerchr6:1515188..1515936hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38749
hg19749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759942, essv6959673, essv6708318, essv6890113, essv6770689, essv6802485, essv6670972, essv6826279, essv6739882, essv6759564, essv6974613, essv6951770, essv6704895, essv6878529, essv6855079, essv6938887, essv6903631, essv6963554, essv6914984, essv6676445, essv6697846, essv6969253, essv6943254, essv6825076, essv6860690, essv6927218, essv6911219, essv6830082, essv6745871, essv6694053, essv6814224, essv6711737, essv6848964, essv6896685, essv6869599
SamplesSSM008, SSM027, SSM065, SSM087, SSM038, SSM097, SSM013, SSM073, SSM093, SSM042, SSM088, SSM041, SSM023, SSM028, SSM090, SSM061, SSM029, SSM032, SSM003, SSM031, SSM086, SSM081, SSM040, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM010, SSM055, SSM025, SSM004, SSM099, SSM052
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)esv2731435
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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