A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733173



Internal ID9967495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:12554112..12554595hg38UCSC Ensembl
Outerchr10:12596111..12596594hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38484
hg19484
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763169, essv6731774, essv6746569, essv6965216, essv6727997, essv6740771, essv6705905, essv6819271, essv6931465, essv6866708, essv6755271, essv6677483, essv6906274, essv6811962, essv6765566, essv6904600, essv6779129, essv6720354, essv6838305, essv6900380, essv6944532, essv6912269, essv6791498, essv6842117, essv6887742
SamplesSSM027, SSM013, SSM055, SSM084, SSM040, SSM078, SSM089, SSM020, SSM032, SSM067, SSM083, SSM062, SSM100, SSM047, SSM002, SSM063, SSM046, SSM096, SSM023, SSM052, SSM044, SSM015, SSM076, SSM058, SSM070
Known GenesCAMK1D
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)esv2733173
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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