A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785290



Internal ID10190242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10312192..10312320hg38UCSC Ensembl
Outerchr2:10452318..10452446hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719644, esv2719647, esv2719646, esv2719645
Supporting Variants
SamplesSSM069
Known GenesHPCAL1
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)essv6785290
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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