A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700130



Internal ID9769587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232329516..232441825hg38UCSC Ensembl
Outerchr2:233194226..233306535hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38112310
hg19112310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721624
Supporting Variants
SamplesSSM039
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)essv6700130
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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