A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733940



Internal ID10317576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:20378208..20378625hg38UCSC Ensembl
Outerchr10:20667137..20667554hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6976520, essv6862953, essv6709225, essv6771750, essv6787416, essv6827360, essv6724175, essv6912272, essv6856671, essv6698519, essv6709065, essv6952886, essv6958696, essv6866720, essv6927654, essv6720366, essv6965229, essv6716445, essv6775406, essv6897397, essv6677493, essv6672613, essv6882074, essv6931475, essv6811972, essv6684801, essv6702091, essv6850650, essv6861969, essv6908519, essv6879255, essv6890974, essv6887752, essv6923984, essv6896165, essv6894370, essv6900389, essv6815171, essv6688018, essv6746579, essv6915847, essv6765572, essv6705910, essv6819283, essv6806134
SamplesSSM100, SSM027, SSM045, SSM011, SSM065, SSM087, SSM038, SSM097, SSM039, SSM093, SSM074, SSM088, SSM041, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM066, SSM006, SSM040, SSM020, SSM015, SSM078, SSM016, SSM080, SSM077, SSM076, SSM055, SSM025, SSM034, SSM099, SSM043, SSM098, SSM063, SSM012
Known Genes
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)esv2733940
Frequency
Sample Size96
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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