A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6825478



Internal ID10226412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:208143503..208143623hg38UCSC Ensembl
Outerchr2:209008227..209008347hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721407
Supporting Variants
SamplesSSM080
Known GenesCRYGB, LOC100507443
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)essv6825478
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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