A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv576e201



Internal ID22759934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2792607..2792857hg38UCSC Ensembl
chr2:2796379..2796629hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719442, esv2719444
SamplesSSM071, SSM027, SSM045, SSM079, SSM084, SSM069, SSM026, SSM068, SSM080, SSM034
Known Genes
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)dgv576e201
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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