A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732984



Internal ID10316620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11513920..11514605hg38UCSC Ensembl
Outerchr10:11555919..11556604hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779126, essv6862864, essv6931463, essv6887740, essv6866704, essv6850635, essv6894363, essv6904598, essv6834593, essv6896098, essv6749422, essv6809119, essv6958682, essv6845682, essv6912266, essv6884859, essv6755270, essv6890965, essv6882067
SamplesSSM075, SSM011, SSM097, SSM013, SSM058, SSM096, SSM026, SSM089, SSM094, SSM067, SSM086, SSM085, SSM082, SSM020, SSM015, SSM095, SSM098, SSM056, SSM012
Known GenesUSP6NL
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)esv2732984
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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