A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740040



Internal ID3290536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98737188..98737539hg38UCSC Ensembl
Outerchr10:100496945..100497296hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38352
hg19352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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
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)esv2740040
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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