A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721642



Internal ID10305278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232899935..232900395hg38UCSC Ensembl
Outerchr2:233764645..233765105hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38461
hg19461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6955559, essv6810678, essv6955558
SamplesSSM026, SSM076
Known GenesNGEF
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)esv2721642
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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