A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731402



Internal ID10315038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:910263..911160hg38UCSC Ensembl
Outerchr6:910613..911432hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38898
hg19820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865456, essv6876598, essv6855075, essv6943928, essv6907424, essv6687155, essv6754437, essv6848959, essv6818077, essv6762544, essv6934598, essv6770688, essv6670965, essv6708315, essv6974605, essv6826275, essv6956832, essv6860687, essv6963553, essv6764924, essv6702887
SamplesSSM027, SSM065, SSM087, SSM088, SSM002, SSM041, SSM058, SSM021, SSM029, SSM062, SSM026, SSM089, SSM035, SSM031, SSM001, SSM014, SSM086, SSM006, SSM078, SSM080, SSM063
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)esv2731402
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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