A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739973



Internal ID10323609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:98407361..98408187hg38UCSC Ensembl
Outerchr10:100167118..100167944hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6705971, essv6944618, essv6791568, essv6935837, essv6691372, essv6834653, essv6787483, essv6894422, essv6866800, essv6870534, essv6702175, essv6806183, essv6815221, essv6771793, essv6900436, essv6965337, essv6838358, essv6716512, essv6695267, essv6931544, essv6924058, essv6724226, essv6677559, essv6882130, essv6779191, essv6681334, essv6976655, essv6904662, essv6720424, essv6842177
SamplesSSM100, SSM036, SSM083, SSM027, SSM045, SSM065, SSM039, SSM013, SSM074, SSM023, SSM084, SSM090, SSM021, SSM018, SSM069, SSM029, SSM089, SSM094, SSM032, SSM067, SSM044, SSM033, SSM040, SSM082, SSM020, SSM037, SSM077, SSM070, SSM043, SSM098
Known GenesPYROXD2
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)esv2739973
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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