A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723065



Internal ID10306701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10122261..10125555hg38UCSC Ensembl
Outerchr21:10600289..10603583hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383295
hg193295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6883169, essv6750517, essv6836033, essv6921593, essv6843030, essv6766463, essv6877596, essv6946338, essv6885889, essv6909921, essv6836032, essv6905999, essv6950392, essv6874610, essv6807274, essv6761781, essv6747510, essv6813076, essv6776803, essv6747690, essv6788997, essv6783476, essv6692633, essv6756461, essv6756464
SamplesSSM036, SSM008, SSM024, SSM013, SSM074, SSM023, SSM058, SSM092, SSM069, SSM061, SSM017, SSM094, SSM014, SSM066, SSM082, SSM007, SSM076, SSM010, SSM091, SSM055, SSM095, SSM056, SSM063
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)esv2723065
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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