A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804780



Internal ID9860744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:232378400..232406588hg38UCSC Ensembl
Outerchr2:233243110..233271298hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3828189
hg1928189
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721624, esv2721626
Supporting Variants
SamplesSSM074
Known GenesALPP, 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)essv6804780
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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