A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740840



Internal ID9975183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110720452..110720900hg38UCSC Ensembl
Outerchr10:112480210..112480658hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv104e201
Supporting Variantsessv6705982, essv6940049, essv6823374, essv6795762, essv6894428, essv6863598, essv6787497, essv6691383, essv6924067, essv6856790, essv6931554, essv6783296, essv6882138, essv6779201, essv6827437, essv6695275, essv6948800, essv6775465, essv6677567, essv6799937
SamplesSSM036, SSM071, SSM024, SSM011, SSM079, SSM087, SSM018, SSM069, SSM094, SSM032, SSM067, SSM066, SSM068, SSM040, SSM072, SSM020, SSM080, SSM037, SSM022, SSM098
Known GenesRBM20
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)esv2740840
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer