A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733528



Internal ID9967852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:15229190..15230538hg38UCSC Ensembl
Outerchr10:15271189..15272537hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6896142, essv6968629, essv6699710, essv6927648, essv6783196, essv6791502, essv6806129, essv6884863, essv6915845, essv6724172, essv6716442, essv6970430, essv6819278, essv6939979, essv6771747, essv6965223, essv6856663, essv6845689, essv6935754, essv6834596, essv6866716, essv6876412, essv6870479, essv6743778, essv6734959, essv6735821, essv6830991, essv6775404, essv6976511, essv6763172, essv6737644, essv6923981, essv6709009, essv6760715
SamplesSSM027, SSM045, SSM065, SSM087, SSM050, SSM074, SSM028, SSM092, SSM090, SSM021, SSM018, SSM061, SSM029, SSM062, SSM089, SSM019, SSM001, SSM066, SSM006, SSM085, SSM068, SSM081, SSM082, SSM007, SSM078, SSM016, SSM053, SSM022, SSM070, SSM095, SSM004, SSM043, SSM049, SSM012
Known GenesFAM171A1
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)esv2733528
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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