A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679627



Internal ID9749276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232324230..232434059hg38UCSC Ensembl
Outerchr2:233188940..233298769hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38109830
hg19109830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721624
Supporting Variants
SamplesSSM033
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
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)essv6679627
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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