A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731544



Internal ID9965862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:7817430..8348230hg38UCSC Ensembl
Outerchr6:7817663..8348463hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38530801
hg19530801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963583, essv6723140, essv6886940, essv6890120, essv6667497, essv6865474, essv6708327, essv6754450, essv6739896, essv6786289, essv6854643, essv6893409, essv6808311, essv6808310, essv6680307, essv6700956, essv6844813, essv6860706, essv6899602, essv6974637, essv6848984, essv6670991, essv6700957, essv6818099, essv6811215, essv6837333, essv6926698, essv6907439
SamplesSSM100, SSM083, SSM027, SSM075, SSM045, SSM011, SSM097, SSM039, SSM088, SSM041, SSM058, SSM069, SSM029, SSM096, SSM089, SSM019, SSM031, SSM014, SSM086, SSM033, SSM085, SSM078, SSM076, SSM052, SSM098, SSM030
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, EEF1E1, EEF1E1-BLOC1S5, PIP5K1P1, SCARNA27, TXNDC5
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)esv2731544
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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