A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730084



Internal ID9964400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1540528..1542889hg38UCSC Ensembl
Outerchr10:1582723..1585084hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952835, essv6735543, essv6904567, essv6923928, essv6702050, essv6952834, essv6771707, essv6743752, essv6842084, essv6931433, essv6795651, essv6958625, essv6894335, essv6720332, essv6842083, essv6856613, essv6908486, essv6716400, essv6779093, essv6904566, essv6823272, essv6791468, essv6709197, essv6799839, essv6677451, essv6850583, essv6935713, essv6771706, essv6705878, essv6724138, essv6787369, essv6890948, essv6965168, essv6866666, essv6882052, essv6684854, essv6803226, essv6944497, essv6783160
SamplesSSM065, SSM007, SSM027, SSM013, SSM053, SSM086, SSM084, SSM040, SSM043, SSM089, SSM025, SSM072, SSM020, SSM071, SSM032, SSM039, SSM045, SSM067, SSM094, SSM097, SSM041, SSM005, SSM073, SSM069, SSM021, SSM087, SSM023, SSM079, SSM068, SSM044, SSM026, SSM014, SSM098, SSM018, SSM070
Known GenesADARB2, ADARB2-AS1
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)esv2730084
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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