A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6773751



Internal ID9833173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71079286..71179661hg38UCSC Ensembl
Outerchr2:71306416..71406791hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38100376
hg19100376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720185
Supporting Variants
SamplesSSM066
Known GenesMCEE, MPHOSPH10
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)essv6773751
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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