A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734872



Internal ID9969202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28901684..28901853hg38UCSC Ensembl
Outerchr10:29190613..29190782hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6702096, essv6904609, essv6970436, essv6795696
SamplesSSM071, SSM039, SSM013, SSM028
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)esv2734872
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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