A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740862



Internal ID9975205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110720493..110720963hg38UCSC Ensembl
Outerchr10:112480251..112480721hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv104e201
Supporting Variantsessv6823374, essv6863598, essv6783296, essv6677567, essv6799937
SamplesSSM011, SSM079, SSM032, SSM068, SSM072
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)esv2740862
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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