A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740040



Internal ID5050772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100496945..100497296hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6724227, essv6819389, essv6695268, essv6806184, essv6870535, essv6948792, essv6924059, essv6936751, essv6691373, essv6827426, essv6862062, essv6702176, essv6965338, essv6812027, essv6779192, essv6850757, essv6897450, essv6672726, essv6919878, essv6891035, essv6831052, essv6879304, essv6976656, essv6731846, essv6866801, essv6834655, essv6705972, essv6712771, essv6944620, essv6815222, essv6720425, essv6681335
SamplesSSM027, SSM082, SSM086, SSM036, SSM033, SSM099, SSM042, SSM040, SSM078, SSM088, SSM089, SSM090, SSM031, SSM039, SSM024, SSM045, SSM067, SSM097, SSM077, SSM093, SSM017, SSM029, SSM003, SSM047, SSM037, SSM023, SSM044, SSM074, SSM018, SSM076, SSM081, SSM080
Known GenesHPSE2
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2740040
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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