A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719823



Internal ID9954117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25380481..25381083hg38UCSC Ensembl
Outerchr2:25603350..25603952hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38603
hg19603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689524, essv6898830, essv6832847, essv6787020, essv6919218, essv6789473, essv6896041, essv6671432, essv6892582, essv6739068, essv6902799, essv6829259, essv6707523, essv6946777, essv6836470, essv6785308, essv6914221, essv6751043
SamplesSSM100, SSM036, SSM008, SSM083, SSM024, SSM013, SSM009, SSM041, SSM069, SSM003, SSM081, SSM082, SSM016, SSM005, SSM070, SSM099, SSM052, SSM098
Known GenesDTNB
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)esv2719823
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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