A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734912



Internal ID9969242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100993122..101003251hg38UCSC Ensembl
Outerchr7:100636403..100646532hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3810130
hg1910130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1106e201
Supporting Variantsessv6927102, essv6865981, essv6811564, essv6740270, essv6694547, essv6919188, essv6690760, essv6701435, essv6837750, essv6975355, essv6957550, essv6719751, essv6902452, essv6778528, essv6687525, essv6798320, essv6754800, essv6671616, essv6878853, essv6748977, essv6751846, essv6915338, essv6751847, essv6680703, essv6870032, essv6712148, essv6822740, essv6855712, essv6845214, essv6774866
SamplesSSM036, SSM083, SSM079, SSM087, SSM039, SSM009, SSM093, SSM042, SSM002, SSM057, SSM058, SSM090, SSM029, SSM026, SSM089, SSM017, SSM019, SSM035, SSM031, SSM067, SSM044, SSM033, SSM066, SSM085, SSM016, SSM037, SSM076, SSM052, SSM056
Known GenesMUC12
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)esv2734912
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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